1-46070614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070614
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070614
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.177G>A
  hgvsp: ENST00000525515.1:c.177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.114G>A
  hgvsp: ENST00000470768.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*181G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1540G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.225G>A
  hgvsp: ENST00000350030.3:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.331G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*134G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436778
  ensembl transcript: ENST00000531532
  gene symbol: NASP
  hgvsc: ENST00000531532.1:c.*207G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.225G>A
  hgvsp: ENST00000437901.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8227G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*181G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*200G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.225G>A
  hgvsp: ENST00000351223.3:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1540G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.231G>A
  hgvsp: ENST00000402363.3:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1540G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1540G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.312G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys75Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-46070628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070628
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8213C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.239C>T
  hgvsp: ENSP00000400792.2:p.Thr80Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*195C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.239C>T
  hgvsp: ENSP00000255121.4:p.Thr80Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1526C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1526C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1526C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.245C>T
  hgvsp: ENSP00000384529.3:p.Thr82Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.128C>T
  hgvsp: ENSP00000436924.1:p.Thr43Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436778
  ensembl transcript: ENST00000531532
  gene symbol: NASP
  hgvsc: ENST00000531532.1:c.*221C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*148C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*195C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.191C>T
  hgvsp: ENSP00000436939.1:p.Thr64Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1526C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.326C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.239C>T
  hgvsp: ENSP00000255120.5:p.Thr80Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.345C>T
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr80Ile
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

1-46070633-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070633
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070633
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436778
  ensembl transcript: ENST00000531532
  gene symbol: NASP
  hgvsc: ENST00000531532.1:c.*226A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*219A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.244A>G
  hgvsp: ENSP00000255120.5:p.Asn82Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.133A>G
  hgvsp: ENSP00000436924.1:p.Asn45Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8208A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*200A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*200A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.350A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.244A>G
  hgvsp: ENSP00000400792.2:p.Asn82Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.196A>G
  hgvsp: ENSP00000436939.1:p.Asn66Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.250A>G
  hgvsp: ENSP00000384529.3:p.Asn84Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1521A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1521A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.331A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1521A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.244A>G
  hgvsp: ENSP00000255121.4:p.Asn82Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1521A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*153A>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn82Asp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-46070636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070636
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070636
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.353G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1518G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.199G>A
  hgvsp: ENSP00000436939.1:p.Glu67Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.253G>A
  hgvsp: ENSP00000384529.3:p.Glu85Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1518G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8205G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.334G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*203G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.136G>A
  hgvsp: ENSP00000436924.1:p.Glu46Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.247G>A
  hgvsp: ENSP00000400792.2:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.247G>A
  hgvsp: ENSP00000255121.4:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*156G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.247G>A
  hgvsp: ENSP00000255120.5:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436778
  ensembl transcript: ENST00000531532
  gene symbol: NASP
  hgvsc: ENST00000531532.1:c.*229G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1518G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*203G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1518G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*222G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu83Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-46070694-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070694
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070694
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1460G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+57G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1460G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1460G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8147G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+6G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1460G>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.299+6G>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-46070697-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070697
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+60G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1457G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1457G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8144G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1457G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1457G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+9G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+9G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

1-46070702-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070702
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070702
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1452A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1452A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1452A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+65A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1452A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+14A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8139A>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-46070711-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070709
    reference: chr 1
allele count: 5
allele frequency: 4.119905736556747e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1442_108-1441delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1442_108-1441delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+24_251+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+75_335+76delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+24_*274+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1442_108-1441delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+24_*255+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+24_305+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8129_108-8128delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+24_299+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+24_299+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1442_219-1441delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+24_*208+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+24_188+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+24_299+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+24_405+25delTG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+24_*255+25delTG
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CTG
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-46070714-A-AATTACCATCTAATCTAAAACATTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070738
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 121346
alternate allele: AATTACCATCTAATCTAAAACATTT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-46070714-A-AATTACCATCTAATCTAAAACATTTAGTTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070744
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 121346
alternate allele: AATTACCATCTAATCTAAAACATTTAGTTCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-46070714-A-AATTACCATCTAATCTAAAACATTTAGTTCTAGTTCTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070752
    reference: chr 1
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: AATTACCATCTAATCTAAAACATTTAGTTCTAGTTCTTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-46070715-A-ATTACCATCTAATCTAAAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070734
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: ATTACCATCTAATCTAAAAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4618
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-46070716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070716
    reference: chr 1
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1438G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+79G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8125G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1438G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1438G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1438G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+28G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+28G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-46070716-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070716
    reference: chr 1
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1438G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+79G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1438G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8125G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1438G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+28G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1438G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+28G>T
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 4163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

1-46070717-T-TACCATCTAATCTAAAACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070735
    reference: chr 1
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: TACCATCTAATCTAAAACA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-46070717-T-TTCTAGTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070725
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 121348
alternate allele: TTCTAGTTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

1-46070724-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070724
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070724
    reference: chr 1
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+87G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1430G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1430G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1430G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8117G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+36G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1430G>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-46070726-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070726
    reference: chr 1
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1428T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8115T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1428T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+89T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1428T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+38T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1428T>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-46070733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070733
    reference: chr 1
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8108G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+96G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1421G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1421G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1421G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+45G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1421G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

1-46070736-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46070736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46070736
    reference: chr 1
allele count: 52
allele frequency: 4.28788178639752e-4
allele num: 121272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-1418T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.188+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.299+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.405+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.299+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.251+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*274+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.335+99T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-1418T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*255+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-1418T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.305+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-8105T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*255+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*208+48T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-1418T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.299+48T>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

1-46072104-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072104
    reference: chr 1
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-85T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6737T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-50T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-50T>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

1-46072104-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072104
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072104
    reference: chr 1
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6737T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-85T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-50T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-50T>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

1-46072105-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072105
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072105
    reference: chr 1
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-84T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6736T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-49T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-49T>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-46072108-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072108
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072108
    reference: chr 1
allele count: 2
allele frequency: 1.656287266463495e-5
allele num: 120752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-81T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6733T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-46T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-46T>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-46072111-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072111
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072111
    reference: chr 1
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-78G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6730G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-43G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-43G>T
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26681
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

1-46072116-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072116
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072116
    reference: chr 1
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6725A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-73A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-38A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-38A>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27025
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-46072138-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072138
    reference: chr 1
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6703T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-51T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-16T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-16T>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

1-46072140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072140
    reference: chr 1
allele count: 2
allele frequency: 1.649402916144356e-5
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-49T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6701T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-14T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-14T>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-46072141-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072138
    reference: chr 1
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-10_300-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-10_252-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-10_*256-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-10_189-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-45_336-43delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-10_219-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-10_*209-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-10_300-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-10_300-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-10_108-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6697_108-6695delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-10_306-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-10_406-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-10_*275-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-10_108-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-10_108-8delGTT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-10_*256-8delGTT
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TTTG
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ

1-46072148-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072148
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072148
    reference: chr 1
allele count: 4
allele frequency: 3.297446127973885e-5
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6693T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-41T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-6T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-6T>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.300-6T>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-46072149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072149
    reference: chr 1
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.306-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-40C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.108-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*209-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.300-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*275-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.300-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.108-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*256-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.108-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*256-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.406-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.252-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.189-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.219-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.300-5C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6692C>T
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.300-5C>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

1-46072160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072160
    reference: chr 1
allele count: 3
allele frequency: 2.472187886279357e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-29G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.114G>A
  hgvsp: ENST00000537798.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.306G>A
  hgvsp: ENST00000437901.2:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*262G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.195G>A
  hgvsp: ENST00000470768.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.114G>A
  hgvsp: ENST00000527470.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.412G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.225G>A
  hgvsp: ENST00000372052.4:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*281G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.312G>A
  hgvsp: ENST00000402363.3:c.312G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6681G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.258G>A
  hgvsp: ENST00000525515.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.306G>A
  hgvsp: ENST00000351223.3:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.114G>A
  hgvsp: ENST00000528238.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.306G>A
  hgvsp: ENST00000350030.3:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*262G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu102Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

1-46072163-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072163
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-26T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.117T>C
  hgvsp: ENST00000537798.1:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6678T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.198T>C
  hgvsp: ENST00000470768.1:c.198T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.415T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.309T>C
  hgvsp: ENST00000437901.2:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.315T>C
  hgvsp: ENST00000402363.3:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.309T>C
  hgvsp: ENST00000350030.3:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.261T>C
  hgvsp: ENST00000525515.1:c.261T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.117T>C
  hgvsp: ENST00000527470.1:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*284T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.117T>C
  hgvsp: ENST00000528238.1:c.117T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*265T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*218T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.228T>C
  hgvsp: ENST00000372052.4:c.228T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*265T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.309T>C
  hgvsp: ENST00000351223.3:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn103Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

1-46072170-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072170
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072170
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*272T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*225T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-19T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6671T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.124T>C
  hgvsp: ENST00000527470.1:c.124T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.422T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.268T>C
  hgvsp: ENST00000525515.1:c.268T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.316T>C
  hgvsp: ENST00000350030.3:c.316T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.316T>C
  hgvsp: ENST00000351223.3:c.316T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.205T>C
  hgvsp: ENST00000470768.1:c.205T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.124T>C
  hgvsp: ENST00000537798.1:c.124T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.124T>C
  hgvsp: ENST00000528238.1:c.124T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.235T>C
  hgvsp: ENST00000372052.4:c.235T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.316T>C
  hgvsp: ENST00000437901.2:c.316T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.322T>C
  hgvsp: ENST00000402363.3:c.322T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*291T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*272T>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu106Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-46072178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072178
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072178
    reference: chr 1
allele count: 170
allele frequency: 1.400490995666716e-3
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.324C>T
  hgvsp: ENST00000350030.3:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.324C>T
  hgvsp: ENST00000351223.3:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*233C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.132C>T
  hgvsp: ENST00000528238.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.132C>T
  hgvsp: ENST00000537798.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*299C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*280C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.276C>T
  hgvsp: ENST00000525515.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*280C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6663C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.132C>T
  hgvsp: ENST00000527470.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.330C>T
  hgvsp: ENST00000402363.3:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.324C>T
  hgvsp: ENST00000437901.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.213C>T
  hgvsp: ENST00000470768.1:c.213C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.243C>T
  hgvsp: ENST00000372052.4:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.430C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-11C>T
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn108Asn
num of homozygotes: 1
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-46072179-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072179
    reference: chr 1
allele count: 5
allele frequency: 4.119159032491926e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*234G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.325G>T
  hgvsp: ENSP00000255120.5:p.Ala109Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-10G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*281G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.214G>T
  hgvsp: ENSP00000436924.1:p.Ala72Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.133G>T
  hgvsp: ENSP00000438871.1:p.Ala45Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.244G>T
  hgvsp: ENSP00000361122.4:p.Ala82Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*281G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.331G>T
  hgvsp: ENSP00000384529.3:p.Ala111Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.277G>T
  hgvsp: ENSP00000436939.1:p.Ala93Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.133G>T
  hgvsp: ENSP00000437241.1:p.Ala45Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.133G>T
  hgvsp: ENSP00000432289.1:p.Ala45Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6662G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.325G>T
  hgvsp: ENSP00000255121.4:p.Ala109Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.431G>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.325G>T
  hgvsp: ENSP00000400792.2:p.Ala109Ser
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*300G>T
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala109Ser
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

1-46072182-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072182
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6659T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*303T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.328T>A
  hgvsp: ENSP00000400792.2:p.Leu110Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*284T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*284T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.328T>A
  hgvsp: ENSP00000255121.4:p.Leu110Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.247T>A
  hgvsp: ENSP00000361122.4:p.Leu83Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.334T>A
  hgvsp: ENSP00000384529.3:p.Leu112Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.136T>A
  hgvsp: ENSP00000438871.1:p.Leu46Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.434T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.217T>A
  hgvsp: ENSP00000436924.1:p.Leu73Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*237T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.136T>A
  hgvsp: ENSP00000437241.1:p.Leu46Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.328T>A
  hgvsp: ENSP00000255120.5:p.Leu110Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.280T>A
  hgvsp: ENSP00000436939.1:p.Leu94Met
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-7T>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.136T>A
  hgvsp: ENSP00000432289.1:p.Leu46Met
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu110Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-46072182-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072182
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.136T>G
  hgvsp: ENSP00000438871.1:p.Leu46Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*237T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*303T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336-7T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6659T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.328T>G
  hgvsp: ENSP00000255121.4:p.Leu110Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.328T>G
  hgvsp: ENSP00000400792.2:p.Leu110Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.217T>G
  hgvsp: ENSP00000436924.1:p.Leu73Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*284T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.136T>G
  hgvsp: ENSP00000437241.1:p.Leu46Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.136T>G
  hgvsp: ENSP00000432289.1:p.Leu46Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.280T>G
  hgvsp: ENSP00000436939.1:p.Leu94Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.334T>G
  hgvsp: ENSP00000384529.3:p.Leu112Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.328T>G
  hgvsp: ENSP00000255120.5:p.Leu110Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.247T>G
  hgvsp: ENSP00000361122.4:p.Leu83Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*284T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.434T>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu110Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-46072189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072189
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.143G>A
  hgvsp: ENSP00000432289.1:p.Gly48Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6652G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.441G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.341G>A
  hgvsp: ENSP00000384529.3:p.Gly114Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.254G>A
  hgvsp: ENSP00000361122.4:p.Gly85Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*310G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.335G>A
  hgvsp: ENSP00000255121.4:p.Gly112Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.143G>A
  hgvsp: ENSP00000438871.1:p.Gly48Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.287G>A
  hgvsp: ENSP00000436939.1:p.Gly96Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*291G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.335G>A
  hgvsp: ENSP00000400792.2:p.Gly112Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.335G>A
  hgvsp: ENSP00000255120.5:p.Gly112Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.143G>A
  hgvsp: ENSP00000437241.1:p.Gly48Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000435363
  ensembl transcript: ENST00000528084
  gene symbol: NASP
  hgvsc: ENST00000528084.1:c.*244G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.336G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.224G>A
  hgvsp: ENSP00000436924.1:p.Gly75Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*291G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly112Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

1-46072205-GGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072205
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072202
    reference: chr 1
allele count: 7
allele frequency: 5.766822645488697e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.164_166delAAG
  hgvsp: ENSP00000438871.1:p.Glu55del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.164_166delAAG
  hgvsp: ENSP00000437241.1:p.Glu55del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.356_358delAAG
  hgvsp: ENSP00000255120.5:p.Glu119del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.275_277delAAG
  hgvsp: ENSP00000361122.4:p.Glu92del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*312_*314delAAG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.356_358delAAG
  hgvsp: ENSP00000400792.2:p.Glu119del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.357_359delAAG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.245_247delAAG
  hgvsp: ENSP00000436924.1:p.Glu82del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.356_358delAAG
  hgvsp: ENSP00000255121.4:p.Glu119del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.362_364delAAG
  hgvsp: ENSP00000384529.3:p.Glu121del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.308_310delAAG
  hgvsp: ENSP00000436939.1:p.Glu103del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.462_464delAAG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.164_166delAAG
  hgvsp: ENSP00000432289.1:p.Glu55del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*331_*333delAAG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*312_*314delAAG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6631_108-6629delAAG
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu119del
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: GGAA
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-46072206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072206
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072206
    reference: chr 1
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.160G>A
  hgvsp: ENSP00000432289.1:p.Glu54Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.458G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.160G>A
  hgvsp: ENSP00000438871.1:p.Glu54Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.304G>A
  hgvsp: ENSP00000436939.1:p.Glu102Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.271G>A
  hgvsp: ENSP00000361122.4:p.Glu91Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.352G>A
  hgvsp: ENSP00000255121.4:p.Glu118Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*327G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6635G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.352G>A
  hgvsp: ENSP00000255120.5:p.Glu118Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.358G>A
  hgvsp: ENSP00000384529.3:p.Glu120Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.160G>A
  hgvsp: ENSP00000437241.1:p.Glu54Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.241G>A
  hgvsp: ENSP00000436924.1:p.Glu81Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*308G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.352G>A
  hgvsp: ENSP00000400792.2:p.Glu118Lys
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.353G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu118Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

1-46072211-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072211
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.358A>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.165A>T
  hgvsp: ENSP00000437241.1:p.Glu55Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.165A>T
  hgvsp: ENSP00000432289.1:p.Glu55Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.357A>T
  hgvsp: ENSP00000255121.4:p.Glu119Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*332A>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.165A>T
  hgvsp: ENSP00000438871.1:p.Glu55Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.276A>T
  hgvsp: ENSP00000361122.4:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.246A>T
  hgvsp: ENSP00000436924.1:p.Glu82Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.357A>T
  hgvsp: ENSP00000400792.2:p.Glu119Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.357A>T
  hgvsp: ENSP00000255120.5:p.Glu119Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.309A>T
  hgvsp: ENSP00000436939.1:p.Glu103Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*313A>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6630A>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*313A>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.363A>T
  hgvsp: ENSP00000384529.3:p.Glu121Asp
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.463A>T
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu119Asp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-46072228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072228
    reference: chr 1
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.182A>G
  hgvsp: ENSP00000432289.1:p.Asp61Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.263A>G
  hgvsp: ENSP00000436924.1:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6613A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.374A>G
  hgvsp: ENSP00000400792.2:p.Asp125Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.182A>G
  hgvsp: ENSP00000438871.1:p.Asp61Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.293A>G
  hgvsp: ENSP00000361122.4:p.Asp98Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*330A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.375A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.374A>G
  hgvsp: ENSP00000255120.5:p.Asp125Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.374A>G
  hgvsp: ENSP00000255121.4:p.Asp125Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*349A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.182A>G
  hgvsp: ENSP00000437241.1:p.Asp61Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.480A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*330A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.380A>G
  hgvsp: ENSP00000384529.3:p.Asp127Gly
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.326A>G
  hgvsp: ENSP00000436939.1:p.Asp109Gly
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp125Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

1-46072229-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072229
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072229
    reference: chr 1
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.183T>C
  hgvsp: ENST00000527470.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.375T>C
  hgvsp: ENST00000351223.3:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6612T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.294T>C
  hgvsp: ENST00000372052.4:c.294T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.183T>C
  hgvsp: ENST00000528238.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.481T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*331T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.183T>C
  hgvsp: ENST00000537798.1:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*331T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.381T>C
  hgvsp: ENST00000402363.3:c.381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.264T>C
  hgvsp: ENST00000470768.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.327T>C
  hgvsp: ENST00000525515.1:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.375T>C
  hgvsp: ENST00000437901.2:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.376T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.375T>C
  hgvsp: ENST00000350030.3:c.375T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*350T>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp125Asp
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-46072239-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072239
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072239
    reference: chr 1
allele count: 3
allele frequency: 2.48147167813658e-5
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.304G>A
  hgvsp: ENSP00000361122.4:p.Val102Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*360G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.385G>A
  hgvsp: ENSP00000255121.4:p.Val129Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.385G>A
  hgvsp: ENSP00000400792.2:p.Val129Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.193G>A
  hgvsp: ENSP00000438871.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.193G>A
  hgvsp: ENSP00000437241.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.274G>A
  hgvsp: ENSP00000436924.1:p.Val92Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.193G>A
  hgvsp: ENSP00000432289.1:p.Val65Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.337G>A
  hgvsp: ENSP00000436939.1:p.Val113Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.491G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.386G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*341G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.391G>A
  hgvsp: ENSP00000384529.3:p.Val131Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.385G>A
  hgvsp: ENSP00000255120.5:p.Val129Ile
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6602G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*341G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val129Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

1-46072247-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072247
    reference: chr 1
allele count: 1
allele frequency: 8.30923654734603e-6
allele num: 120348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.201T>C
  hgvsp: ENST00000528238.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.393T>C
  hgvsp: ENST00000351223.3:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*368T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*349T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.282T>C
  hgvsp: ENST00000470768.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.399T>C
  hgvsp: ENST00000402363.3:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.312T>C
  hgvsp: ENST00000372052.4:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.345T>C
  hgvsp: ENST00000525515.1:c.345T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.499T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*349T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.201T>C
  hgvsp: ENST00000537798.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.201T>C
  hgvsp: ENST00000527470.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6594T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.394T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.393T>C
  hgvsp: ENST00000437901.2:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.393T>C
  hgvsp: ENST00000350030.3:c.393T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn131Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-46072248-AATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072245
    reference: chr 1
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*372_*374delGAT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.397_399delGAT
  hgvsp: ENSP00000255120.5:p.Asp133del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.286_288delGAT
  hgvsp: ENSP00000436924.1:p.Asp96del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.349_351delGAT
  hgvsp: ENSP00000436939.1:p.Asp117del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*353_*355delGAT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*353_*355delGAT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.397_399delGAT
  hgvsp: ENSP00000255121.4:p.Asp133del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.397_399delGAT
  hgvsp: ENSP00000400792.2:p.Asp133del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.398_400delGAT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.316_318delGAT
  hgvsp: ENSP00000361122.4:p.Asp106del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.205_207delGAT
  hgvsp: ENSP00000432289.1:p.Asp69del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.503_505delGAT
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.205_207delGAT
  hgvsp: ENSP00000437241.1:p.Asp69del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.205_207delGAT
  hgvsp: ENSP00000438871.1:p.Asp69del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.403_405delGAT
  hgvsp: ENSP00000384529.3:p.Asp135del
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6590_108-6588delGAT
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp133del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: AATG
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-46072256-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072256
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072254
    reference: chr 1
allele count: 1
allele frequency: 8.389120987902887e-6
allele num: 119202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.404_405delTA
  hgvsp: ENSP00000400792.2:p.Ile135ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*360_*361delTA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.212_213delTA
  hgvsp: ENSP00000437241.1:p.Ile71ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.323_324delTA
  hgvsp: ENSP00000361122.4:p.Ile108ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.410_411delTA
  hgvsp: ENSP00000384529.3:p.Ile137ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.404_405delTA
  hgvsp: ENSP00000255121.4:p.Ile135ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.405_406delTA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*379_*380delTA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6583_108-6582delTA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.212_213delTA
  hgvsp: ENSP00000438871.1:p.Ile71ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.510_511delTA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.212_213delTA
  hgvsp: ENSP00000432289.1:p.Ile71ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.404_405delTA
  hgvsp: ENSP00000255120.5:p.Ile135ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*360_*361delTA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.293_294delTA
  hgvsp: ENSP00000436924.1:p.Ile98ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.356_357delTA
  hgvsp: ENSP00000436939.1:p.Ile119ArgfsTer2
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile135ArgfsTer2
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CAT
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-46072257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072257
    reference: chr 1
allele count: 9
allele frequency: 7.572188194117251e-5
allele num: 118856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*359A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.403A>G
  hgvsp: ENSP00000400792.2:p.Ile135Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*378A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.292A>G
  hgvsp: ENSP00000436924.1:p.Ile98Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.211A>G
  hgvsp: ENSP00000438871.1:p.Ile71Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.403A>G
  hgvsp: ENSP00000255121.4:p.Ile135Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.211A>G
  hgvsp: ENSP00000432289.1:p.Ile71Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6584A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.509A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.404A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.355A>G
  hgvsp: ENSP00000436939.1:p.Ile119Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.211A>G
  hgvsp: ENSP00000437241.1:p.Ile71Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.322A>G
  hgvsp: ENSP00000361122.4:p.Ile108Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*359A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.403A>G
  hgvsp: ENSP00000255120.5:p.Ile135Val
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.409A>G
  hgvsp: ENSP00000384529.3:p.Ile137Val
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile135Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

1-46072271-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072271
    reference: chr 1
allele count: 1
allele frequency: 8.649770781074301e-6
allele num: 115610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.410+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.298+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6570G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.217+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.523G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.415+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*384+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.409+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*365+8G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.217+8G>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.409+8G>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-46072288-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072288
    reference: chr 1
allele count: 1
allele frequency: 9.134922809902257e-6
allele num: 109470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.415+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.217+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.409+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*365+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.540C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*384+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.298+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.410+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.217+25C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6553C>G
  variant of: http://identifiers.org/hgnc/7644
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-46072288-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072289
    reference: chr 1
allele count: 1
allele frequency: 9.134922809902257e-6
allele num: 109470
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.410+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*365+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.217+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6551dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.298+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*384+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.217+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.542dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.409+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.415+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+27dupA
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+27dupA
  variant of: http://identifiers.org/hgnc/7644
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-46072297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072297
    reference: chr 1
allele count: 20
allele frequency: 1.906759462293832e-4
allele num: 104890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.217+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.549C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6544C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.409+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.217+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.415+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.410+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.298+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*384+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*365+34C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+34C>T
  variant of: http://identifiers.org/hgnc/7644
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

1-46072298-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072298
    reference: chr 1
allele count: 3
allele frequency: 2.86582220439044e-5
allele num: 104682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.410+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6543G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*384+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.298+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.550G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.415+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.409+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.217+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.217+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*365+35G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+35G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22364
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-46072300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072300
    reference: chr 1
allele count: 1
allele frequency: 9.652323314221732e-6
allele num: 103602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.552C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.217+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.298+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.217+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*384+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.409+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*365+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.415+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.410+37C>T
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6541C>T
  variant of: http://identifiers.org/hgnc/7644
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-46072301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072301
    reference: chr 1
allele count: 6
allele frequency: 5.830110577763958e-5
allele num: 102914
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.409+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*384+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.217+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.217+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.415+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.553G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.298+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6540G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*365+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.410+38G>A
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+38G>A
  variant of: http://identifiers.org/hgnc/7644
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22172
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

1-46072312-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072312
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072312
    reference: chr 1
allele count: 2
allele frequency: 2.110996179096916e-5
allele num: 94742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000464190
  gene symbol: NASP
  hgvsc: ENST00000464190.2:n.564C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.217+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.415+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*365+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*384+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.217+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-6529C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.410+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.298+49C>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.409+49C>G
  variant of: http://identifiers.org/hgnc/7644
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10440
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

1-46072886-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072886
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072886
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 30936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.218-107T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*366-107T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*385-107T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-5955T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.299-107T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.410-107T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.411-107T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+623T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+623T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.416-107T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+623T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+623T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+623T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+623T>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.218-107T>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27532
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

1-46072887-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072887
    reference: chr 1
allele count: 36
allele frequency: 1.169894709476147e-3
allele num: 30772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.218-106G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.410-106G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+624G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.299-106G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*366-106G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.416-106G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.411-106G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+624G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+624G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*385-106G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+624G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.218-106G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-5954G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+624G>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+624G>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16527
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

1-46072890-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072890
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072889
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 30906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*385-101delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+629delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+629delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+629delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-5949delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.299-101delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.218-101delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.218-101delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.416-101delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.411-101delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+629delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.410-101delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+629delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+629delG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*366-101delG
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: AG
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-46072894-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072894
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072894
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 31380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.299-99T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+631T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+631T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*385-99T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.410-99T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.411-99T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.218-99T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+631T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+631T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.218-99T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.416-99T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+631T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*366-99T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+631T>C
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-5947T>C
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27941
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15959
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-46072900-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072900
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 31752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*385-93A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.411-93A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.218-93A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+637A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.416-93A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-5941A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.218-93A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+637A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.410-93A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+637A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.299-93A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+637A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*366-93A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+637A>G
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+637A>G
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29452
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-46072911-G-GGAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46072911
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 46072915
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 37480
alternate allele: GGAAT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000388010
  ensembl transcript: ENST00000437362
  gene symbol: NASP
  hgvsc: ENST00000437362.2:c.*365+650_*365+653dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436388
  ensembl transcript: ENST00000529333
  gene symbol: NASP
  hgvsc: ENST00000529333.1:c.*385-80_*385-77dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255120
  ensembl transcript: ENST00000350030
  gene symbol: NASP
  hgvsc: ENST00000350030.3:c.410-80_410-77dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000438871
  ensembl transcript: ENST00000537798
  gene symbol: NASP
  hgvsc: ENST00000537798.1:c.218-80_218-77dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000437241
  ensembl transcript: ENST00000527470
  gene symbol: NASP
  hgvsc: ENST00000527470.1:c.218-80_218-77dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000361122
  ensembl transcript: ENST00000372052
  gene symbol: NASP
  hgvsc: ENST00000372052.4:c.328+650_328+653dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000403157
  ensembl transcript: ENST00000453748
  gene symbol: NASP
  hgvsc: ENST00000453748.1:c.*366-80_*366-77dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000255121
  ensembl transcript: ENST00000351223
  gene symbol: NASP
  hgvsc: ENST00000351223.3:c.409+650_409+653dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000432289
  ensembl transcript: ENST00000528238
  gene symbol: NASP
  hgvsc: ENST00000528238.1:c.217+650_217+653dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl transcript: ENST00000534101
  gene symbol: NASP
  hgvsc: ENST00000534101.1:n.411-80_411-77dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436939
  ensembl transcript: ENST00000525515
  gene symbol: NASP
  hgvsc: ENST00000525515.1:c.361+650_361+653dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000384529
  ensembl transcript: ENST00000402363
  gene symbol: NASP
  hgvsc: ENST00000402363.3:c.416-80_416-77dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000400792
  ensembl transcript: ENST00000437901
  gene symbol: NASP
  hgvsc: ENST00000437901.2:c.409+650_409+653dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436790
  ensembl transcript: ENST00000527359
  gene symbol: NASP
  hgvsc: ENST00000527359.1:c.108-5928_108-5925dupAATG
  variant of: http://identifiers.org/hgnc/7644
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132780
  ensembl protein: ENSP00000436924
  ensembl transcript: ENST00000470768
  gene symbol: NASP
  hgvsc: ENST00000470768.1:c.299-80_299-77dupAATG
  variant of: http://identifiers.org/hgnc/7644
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33153
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G

GenotypeDepth
all individuals: 3482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5229
bin: 5.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 6138
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3809
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4694
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5362
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4619
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2860
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3772
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2187
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5136
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3715
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46577
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4544
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2104
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1033
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.745936e6

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.243e0

GenotypeDepth
all individuals: 6139
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2187
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3810
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3779
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3714
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5361
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3488
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1167
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4619
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5228
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4693
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5136
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4162
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46576
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1083
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4564
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.746253e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.193e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e0

VQSLOD
type: SiteQuality
SIO_000300: -1.229e0

FS
type: SiteQuality
SIO_000300: 2.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.851e0

GenotypeDepth
all individuals: 3811
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3715
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2187
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5228
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6139
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3779
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1166
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4693
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5136
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5361
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2860
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3488
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4619
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 1035
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1811
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1763
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46576
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2105
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.317e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.61e1

FS
type: SiteQuality
SIO_000300: 2.252e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

DP
type: SiteQuality
SIO_000300: 3.746347e6

GenotypeDepth
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.734e0

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

InbreedingCoeff
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SIO_000300: 1.1e-3

MQRankSum
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MQ
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FS
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SIO_000300: 3.0182e1

VQSLOD
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SIO_000300: -3.432e0

QD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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SIO_000300: 4.842e1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002371873780286e-5
allele num: 66614
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
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SIO_000300: 3.742185e6

InbreedingCoeff
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SIO_000300: 3.2e-3

MQRankSum
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ClippingRankSum
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SIO_000300: -1.009e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
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SIO_000300: 4.98e-1

VQSLOD
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SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.288e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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bin: 9.75e1
variant carriers: 2

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002552169343942e-5
allele num: 66610
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 5.31e0

MQRankSum
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SIO_000300: -6.33e-1

FS
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 2.5e-3

MQ
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SIO_000300: 5.938e1

VQSLOD
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SIO_000300: 2.6e-1

ClippingRankSum
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SIO_000300: -5.91e-1

DP
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SIO_000300: 3.740888e6

QD
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

South Asian
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East Asian
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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SIO_000300: 5.908e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 48
allele frequency: 7.202232692134562e-4
allele num: 66646
num of homozygotes: 0

European (Finnish)
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allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

East Asian
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Other
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South Asian
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allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

MQRankSum
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SIO_000300: 1.48e-1

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

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

European (Non-Finnish)
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allele frequency: 1.506841058405159e-5
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num of homozygotes: 0

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

Other
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Latino
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MQ
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SIO_000300: 6.0e1

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

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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

East Asian
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allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.926e1

QD
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SIO_000300: 1.27e1

ClippingRankSum
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SIO_000300: -6.15e-1

InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 7.98e-1

MQRankSum
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SIO_000300: -8.3e-2

FS
type: SiteQuality
SIO_000300: 1.105e0

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 1.759161e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.575e0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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FS
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QD
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ClippingRankSum
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SIO_000300: -4.07e-1

MQRankSum
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SIO_000300: 1.7e0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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GenotypeQuality
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variant carriers: 1

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

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

FS
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SIO_000300: 5.47e0

ClippingRankSum
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SIO_000300: -4.92e-1

ReadPosRankSum
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SIO_000300: 2.83e0

MQ
type: SiteQuality
SIO_000300: 5.721e1

DP
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SIO_000300: 1.759501e6

VQSLOD
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SIO_000300: -2.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.513e1

GenotypeDepth
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variant carriers: 13

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 169

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 8
allele frequency: 1.209555488358028e-3
allele num: 6614
num of homozygotes: 0

African
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allele count: 6
allele frequency: 5.765904285988853e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 151
allele frequency: 2.263257291885248e-3
allele num: 66718
num of homozygotes: 1

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

Other
type: Population
allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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QD
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.494454103963068e-5
allele num: 66716
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
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ReadPosRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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East Asian
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African
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FS
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QD
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VQSLOD
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MQ
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DP
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African
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East Asian
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Latino
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European (Non-Finnish)
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MQ
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MQRankSum
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QD
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FS
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DP
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InbreedingCoeff
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VQSLOD
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South Asian
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African
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European (Non-Finnish)
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FS
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MQ
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VQSLOD
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DP
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European (Finnish)
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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allele frequency: 0.0e0
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Latino
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQ
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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MQRankSum
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SIO_000300: -2.02e-1

ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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Other
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African
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South Asian
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QD
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ClippingRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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South Asian
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Other
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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Other
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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FS
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: -9.7e-2

GenotypeDepth
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variant carriers: 2

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.073191672032625e-4
allele num: 65226
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.238236750866766e-4
allele num: 16152
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

FS
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ClippingRankSum
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SIO_000300: -1.25e-1

MQ
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SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

VQSLOD
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SIO_000300: 1.69e0

InbreedingCoeff
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SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.507e1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

DP
type: SiteQuality
SIO_000300: 1.708985e6

GenotypeDepth
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.354855109303508e-5
allele num: 15736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -2.2e-2

FS
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SIO_000300: 0.0e0

DP
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

ClippingRankSum
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SIO_000300: 6.07e-1

GenotypeDepth
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variant carriers: 0

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

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

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

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.665889251682548e-5
allele num: 60028
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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MQ
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SIO_000300: 6.09e1

DP
type: SiteQuality
SIO_000300: 1.372494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

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

East Asian
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allele num: 7440
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 5.225752508361204e-5
allele num: 57408
num of homozygotes: 0

European (Finnish)
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South Asian
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African
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allele frequency: 1.650846058605035e-3
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East Asian
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Latino
type: Population
allele count: 1
allele frequency: 1.082954299328568e-4
allele num: 9234
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Other
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
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DP
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 501
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.745688150268836e-5
allele num: 57284
num of homozygotes: 0

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

African
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allele frequency: 2.066115702479339e-4
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num of homozygotes: 0

MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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MQ
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SIO_000300: 5.939e1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 6878
num of homozygotes: 0

Latino
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Other
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num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 14358
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 8.884466398948079e-5
allele num: 56278
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.042752867570386e-4
allele num: 9590
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.155411e6

VQSLOD
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InbreedingCoeff
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SIO_000300: -5.5e-3

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: -2.434e0

MQRankSum
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SIO_000300: 1.65e-1

MQ
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ClippingRankSum
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SIO_000300: -3.8e-2

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.49655791679138e-4
allele num: 13364
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52010
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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MQRankSum
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DP
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 60

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Other
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Latino
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South Asian
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
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SIO_000300: -2.77e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.94639e5

MQ
type: SiteQuality
SIO_000300: 5.705e1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

QD
type: SiteQuality
SIO_000300: 1.628e1

ReadPosRankSum
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SIO_000300: 1.64e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
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SIO_000300: -2.6e-2

MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.739e1

ClippingRankSum
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SIO_000300: 3.61e-1

DP
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SIO_000300: 5.04662e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1584
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 18360
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3090
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 1.65e0

QD
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ClippingRankSum
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SIO_000300: 3.61e-1

ReadPosRankSum
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SIO_000300: -7.29e-1

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.486e0

MQRankSum
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SIO_000300: -3.61e-1

MQ
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SIO_000300: 5.739e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

DP
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SIO_000300: 5.29269e5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21696
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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