4-106819122-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819122
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819122
    reference: chr 4
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.136T>C
  hgvsp: ENSP00000426146.1:p.Trp46Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.136T>C
  hgvsp: ENSP00000402884.2:p.Trp46Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.136T>C
  hgvsp: ENSP00000422474.1:p.Trp46Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.136T>C
  hgvsp: ENSP00000302557.8:p.Trp46Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.65T>C
  hgvsp: ENSP00000427507.1:p.Trp23Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.136T>C
  hgvsp: ENSP00000422044.1:p.Trp46Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-177T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.136T>C
  hgvsp: ENSP00000389252.2:p.Trp46Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.136T>C
  hgvsp: ENSP00000369323.2:p.Trp46Arg
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp46Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

4-106819122-T-TGGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819122
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819126
    reference: chr 4
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: TGGTG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.138_139insTGGG
  hgvsp: ENSP00000302557.8:p.Gly47TrpfsTer23
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.138_139insTGGG
  hgvsp: ENSP00000422044.1:p.Gly47TrpfsTer23
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-175_-174insTGGG
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.138_139insTGGG
  hgvsp: ENSP00000402884.2:p.Gly47TrpfsTer40
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.138_139insTGGG
  hgvsp: ENSP00000422474.1:p.Gly47TrpfsTer23
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.138_139insTGGG
  hgvsp: ENSP00000389252.2:p.Gly47TrpfsTer23
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.138_139insTGGG
  hgvsp: ENSP00000369323.2:p.Gly47TrpfsTer23
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.67_68insTGGG
  hgvsp: ENSP00000427507.1:p.Gly24TrpfsTer23
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.138_139insTGGG
  hgvsp: ENSP00000426146.1:p.Gly47TrpfsTer40
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly47TrpfsTer23
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

4-106819126-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819126
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819126
    reference: chr 4
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.140G>T
  hgvsp: ENSP00000369323.2:p.Gly47Val
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.140G>T
  hgvsp: ENSP00000426146.1:p.Gly47Val
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.140G>T
  hgvsp: ENSP00000422044.1:p.Gly47Val
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-173G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.69G>T
  hgvsp: ENSP00000427507.1:p.Gly24Val
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.140G>T
  hgvsp: ENSP00000422474.1:p.Gly47Val
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.140G>T
  hgvsp: ENSP00000389252.2:p.Gly47Val
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.140G>T
  hgvsp: ENSP00000402884.2:p.Gly47Val
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.140G>T
  hgvsp: ENSP00000302557.8:p.Gly47Val
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38108
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly47Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

4-106819126-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819126
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819125
    reference: chr 4
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.141delC
  hgvsp: ENSP00000422474.1:p.Trp48GlyfsTer73
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.141delC
  hgvsp: ENSP00000402884.2:p.Trp48GlyfsTer15
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.70delC
  hgvsp: ENSP00000427507.1:p.Trp25GlyfsTer43
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.141delC
  hgvsp: ENSP00000369323.2:p.Trp48GlyfsTer43
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.141delC
  hgvsp: ENSP00000422044.1:p.Trp48GlyfsTer43
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.141delC
  hgvsp: ENSP00000389252.2:p.Trp48GlyfsTer73
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.141delC
  hgvsp: ENSP00000302557.8:p.Trp48GlyfsTer43
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.141delC
  hgvsp: ENSP00000426146.1:p.Trp48GlyfsTer15
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-172delC
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7666
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Trp48GlyfsTer73
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: GC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

4-106819134-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819134
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819134
    reference: chr 4
allele count: 4
allele frequency: 3.334722801167153e-5
allele num: 119950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.148C>T
  hgvsp: ENSP00000422474.1:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.148C>T
  hgvsp: ENSP00000426146.1:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.148C>T
  hgvsp: ENSP00000389252.2:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.148C>T
  hgvsp: ENSP00000422044.1:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-165C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.148C>T
  hgvsp: ENSP00000369323.2:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.148C>T
  hgvsp: ENSP00000402884.2:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.77C>T
  hgvsp: ENSP00000427507.1:p.Arg27Cys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.148C>T
  hgvsp: ENSP00000302557.8:p.Arg50Cys
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg50Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

4-106819135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819135
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819135
    reference: chr 4
allele count: 5
allele frequency: 4.17376206217236e-5
allele num: 119796
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.149G>A
  hgvsp: ENSP00000302557.8:p.Arg50His
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.149G>A
  hgvsp: ENSP00000402884.2:p.Arg50His
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.149G>A
  hgvsp: ENSP00000426146.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.149G>A
  hgvsp: ENSP00000422474.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.149G>A
  hgvsp: ENSP00000422044.1:p.Arg50His
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.78G>A
  hgvsp: ENSP00000427507.1:p.Arg27His
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-164G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.149G>A
  hgvsp: ENSP00000389252.2:p.Arg50His
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.149G>A
  hgvsp: ENSP00000369323.2:p.Arg50His
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg50His
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: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

4-106819142-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819142
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819142
    reference: chr 4
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-157T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.156T>C
  hgvsp: ENST00000506666.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.156T>C
  hgvsp: ENST00000453617.2:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.156T>C
  hgvsp: ENST00000514622.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.156T>C
  hgvsp: ENST00000503451.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.85T>C
  hgvsp: ENST00000514837.1:c.85T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.156T>C
  hgvsp: ENST00000305572.8:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.156T>C
  hgvsp: ENST00000427316.2:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.156T>C
  hgvsp: ENST00000379987.2:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser52Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

4-106819143-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819143
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819143
    reference: chr 4
allele count: 4
allele frequency: 3.35042047776996e-5
allele num: 119388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.157T>A
  hgvsp: ENSP00000426146.1:p.Trp53Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.157T>A
  hgvsp: ENSP00000402884.2:p.Trp53Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.157T>A
  hgvsp: ENSP00000422474.1:p.Trp53Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.157T>A
  hgvsp: ENSP00000369323.2:p.Trp53Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-156T>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.157T>A
  hgvsp: ENSP00000389252.2:p.Trp53Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.157T>A
  hgvsp: ENSP00000302557.8:p.Trp53Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.157T>A
  hgvsp: ENSP00000422044.1:p.Trp53Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.86T>A
  hgvsp: ENSP00000427507.1:p.Trp30Arg
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp53Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

4-106819144-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819144
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819144
    reference: chr 4
allele count: 93
allele frequency: 7.791816079627333e-4
allele num: 119356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-155G>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.158G>C
  hgvsp: ENSP00000389252.2:p.Trp53Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.87G>C
  hgvsp: ENSP00000427507.1:p.Trp30Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.158G>C
  hgvsp: ENSP00000422474.1:p.Trp53Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.158G>C
  hgvsp: ENSP00000402884.2:p.Trp53Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.158G>C
  hgvsp: ENSP00000426146.1:p.Trp53Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.158G>C
  hgvsp: ENSP00000369323.2:p.Trp53Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.158G>C
  hgvsp: ENSP00000422044.1:p.Trp53Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.158G>C
  hgvsp: ENSP00000302557.8:p.Trp53Ser
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19172
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21302
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp53Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

4-106819149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819149
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819149
    reference: chr 4
allele count: 5
allele frequency: 4.205214465937763e-5
allele num: 118900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.163C>T
  hgvsp: ENSP00000426146.1:p.Gln55Ter
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.163C>T
  hgvsp: ENSP00000369323.2:p.Gln55Ter
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.163C>T
  hgvsp: ENSP00000422474.1:p.Gln55Ter
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.163C>T
  hgvsp: ENSP00000389252.2:p.Gln55Ter
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.163C>T
  hgvsp: ENSP00000302557.8:p.Gln55Ter
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.163C>T
  hgvsp: ENSP00000422044.1:p.Gln55Ter
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-150C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.92C>T
  hgvsp: ENSP00000427507.1:p.Gln32Ter
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.163C>T
  hgvsp: ENSP00000402884.2:p.Gln55Ter
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7276
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln55Ter
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

4-106819159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819159
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819159
    reference: chr 4
allele count: 8
allele frequency: 6.777478439146715e-5
allele num: 118038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+1G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+1G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+1G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.172+1G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.172+1G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+1G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+1G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+1G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+1G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20402
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
hgvs: c.172+1G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

4-106819167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819167
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819167
    reference: chr 4
allele count: 1
allele frequency: 8.533588203167667e-6
allele num: 117184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+9C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.172+9C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+9C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.172+9C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+9C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+9C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+9C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+9C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+9C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-106819172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819172
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819172
    reference: chr 4
allele count: 1
allele frequency: 8.572359284722342e-6
allele num: 116654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+14C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.172+14C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+14C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+14C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.172+14C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+14C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+14C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+14C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+14C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6681
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5397
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

4-106819183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819183
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819183
    reference: chr 4
allele count: 1
allele frequency: 8.658608388459807e-6
allele num: 115492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+25A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+25A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.172+25A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+25A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+25A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.172+25A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+25A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+25A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+25A>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14991
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

4-106819193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819193
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819193
    reference: chr 4
allele count: 4
allele frequency: 3.508464169809666e-5
allele num: 114010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+35G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+35G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.172+35G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+35G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+35G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+35G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+35G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.172+35G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+35G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

4-106819208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819208
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819208
    reference: chr 4
allele count: 1
allele frequency: 9.026248330144059e-6
allele num: 110788
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+50A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.172+50A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+50A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+50A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.172+50A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+50A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+50A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+50A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+50A>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/4-106819209-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819209
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819209
    reference: chr 4
allele count: 1
allele frequency: 9.035872413481521e-6
allele num: 110670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.172+51C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+51C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+51C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+51C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+51C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+51C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+51C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.172+51C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+51C>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2927
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

4-106819209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106819209
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106819209
    reference: chr 4
allele count: 1
allele frequency: 9.035872413481521e-6
allele num: 110670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.172+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.172+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+51C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 5.25e1
  variant carriers: 0
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: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/4-106833320-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106833320
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106833320
    reference: chr 4
allele count: 1
allele frequency: 8.119519324455992e-5
allele num: 12316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.173-25C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+14162C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.301C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.332C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.16C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+14162C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+14162C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+14162C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.173-25C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+14162C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+14162C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+14162C>A
  variant of: http://identifiers.org/hgnc/27405
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

4-106833350-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106833350
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106833348
    reference: chr 4
allele count: 1
allele frequency: 8.119519324455992e-5
allele num: 12316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.172+14193_172+14194delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.172+14193_172+14194delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.179_180delAC
  hgvsp: ENSP00000426146.1:p.Tyr60CysfsTer25
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.47_48delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.172+14193_172+14194delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.332_333delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.172+14193_172+14194delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.363_364delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.179_180delAC
  hgvsp: ENSP00000402884.2:p.Tyr60CysfsTer25
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-141+14193_-141+14194delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.19_20delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.172+14193_172+14194delAC
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.101+14193_101+14194delAC
  variant of: http://identifiers.org/hgnc/27405
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr60CysfsTer25
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: TAC
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

4-106848447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848447
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848447
    reference: chr 4
allele count: 2
allele frequency: 1.778157117962943e-5
allele num: 112476
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.377-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.255C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.227C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.224-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.408-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.173-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.224-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-140-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.173-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.173-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.102-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.173-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.173-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.173-46G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.92-46G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14118
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

4-106848453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848453
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848453
    reference: chr 4
allele count: 2
allele frequency: 1.778315224156634e-5
allele num: 112466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.221G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.173-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.173-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.173-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.102-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-140-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.173-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.224-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.92-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.173-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.224-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.249G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.377-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.408-40C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.173-40C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20186
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-106848459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848459
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848459
    reference: chr 4
allele count: 1
allele frequency: 8.809486054583575e-6
allele num: 113514
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.173-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.377-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.173-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.173-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.243G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.215G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.224-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.408-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.224-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.173-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.92-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.173-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-140-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.173-34C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.102-34C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27632
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

4-106848471-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848471
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848471
    reference: chr 4
allele count: 1
allele frequency: 8.669267446900737e-6
allele num: 115350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.231C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.92-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.173-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.173-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.224-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.377-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.203C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.173-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.408-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.173-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.224-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.173-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-140-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.173-22G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.102-22G>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

4-106848476-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848476
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848476
    reference: chr 4
allele count: 1
allele frequency: 8.591065292096219e-6
allele num: 116400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.224-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.173-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.198G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.173-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.377-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.173-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.408-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.173-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.173-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-140-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.226G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.92-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.224-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.102-17C>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.173-17C>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

4-106848478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848478
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848478
    reference: chr 4
allele count: 1
allele frequency: 8.551686392556613e-6
allele num: 116936
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.173-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.377-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.173-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.196T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.224T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.102-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.224-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.173-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.224-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.173-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-140-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.92-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.408-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.173-15A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.173-15A>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/4-106848504-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848504
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848504
    reference: chr 4
allele count: 1
allele frequency: 8.339727124128499e-6
allele num: 119908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.198G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.184C>A
  hgvsp: ENSP00000422044.1:p.Pro62Thr
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.113C>A
  hgvsp: ENSP00000427507.1:p.Pro39Thr
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.184C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.235C>A
  hgvsp: ENSP00000402884.2:p.Pro79Thr
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.184C>A
  hgvsp: ENSP00000369323.2:p.Pro62Thr
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.184C>A
  hgvsp: ENSP00000302557.8:p.Pro62Thr
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.419C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.184C>A
  hgvsp: ENSP00000389252.2:p.Pro62Thr
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.184C>A
  hgvsp: ENSP00000422474.1:p.Pro62Thr
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.235C>A
  hgvsp: ENSP00000426146.1:p.Pro79Thr
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.103C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-129C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.170G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.388C>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro62Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-106848504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848504
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848504
    reference: chr 4
allele count: 1
allele frequency: 8.339727124128499e-6
allele num: 119908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.184C>T
  hgvsp: ENSP00000369323.2:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.103C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.235C>T
  hgvsp: ENSP00000426146.1:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.235C>T
  hgvsp: ENSP00000402884.2:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.184C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.184C>T
  hgvsp: ENSP00000302557.8:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.419C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.184C>T
  hgvsp: ENSP00000389252.2:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.113C>T
  hgvsp: ENSP00000427507.1:p.Pro39Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.170G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.198G>A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-129C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.388C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.184C>T
  hgvsp: ENSP00000422474.1:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.184C>T
  hgvsp: ENSP00000422044.1:p.Pro62Ser
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro62Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-106848506-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848506
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848506
    reference: chr 4
allele count: 1
allele frequency: 8.330278897737497e-6
allele num: 120044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.237A>G
  hgvsp: ENST00000453617.2:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.168T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.186A>G
  hgvsp: ENST00000427316.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.237A>G
  hgvsp: ENST00000503451.1:c.237A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.186A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.115A>G
  hgvsp: ENST00000514837.1:c.115A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.186A>G
  hgvsp: ENST00000305572.8:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.105A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.186A>G
  hgvsp: ENST00000514622.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.186A>G
  hgvsp: ENST00000506666.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.186A>G
  hgvsp: ENST00000379987.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.421A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-127A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.390A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.196T>C
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro62Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/4-106848507-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848507
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848507
    reference: chr 4
allele count: 1
allele frequency: 8.328336331534413e-6
allele num: 120072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.187C>A
  hgvsp: ENST00000379987.2:c.187C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.116C>A
  hgvsp: ENST00000514837.1:c.116C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.238C>A
  hgvsp: ENST00000453617.2:c.238C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.422C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.391C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.187C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.195G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.187C>A
  hgvsp: ENST00000514622.1:c.187C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.187C>A
  hgvsp: ENST00000506666.1:c.187C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.238C>A
  hgvsp: ENST00000503451.1:c.238C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.187C>A
  hgvsp: ENST00000427316.2:c.187C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.187C>A
  hgvsp: ENST00000305572.8:c.187C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.106C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.167G>T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-126C>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg63Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

4-106848508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848508
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848508
    reference: chr 4
allele count: 75
allele frequency: 6.242716830364575e-4
allele num: 120140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.188G>A
  hgvsp: ENSP00000302557.8:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.188G>A
  hgvsp: ENSP00000422474.1:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.239G>A
  hgvsp: ENSP00000426146.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.194C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.107G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.188G>A
  hgvsp: ENSP00000369323.2:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.117G>A
  hgvsp: ENSP00000427507.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.188G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-125G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.392G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.239G>A
  hgvsp: ENSP00000402884.2:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.188G>A
  hgvsp: ENSP00000389252.2:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.188G>A
  hgvsp: ENSP00000422044.1:p.Arg63Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.423G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.166C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.Arg63Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

4-106848524-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848524
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848524
    reference: chr 4
allele count: 1208
allele frequency: 1.002572827620549e-2
allele num: 120490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.255A>G
  hgvsp: ENST00000453617.2:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.408A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.133A>G
  hgvsp: ENST00000514837.1:c.133A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-109A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.204A>G
  hgvsp: ENST00000427316.2:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.178T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.123A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.150T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.255A>G
  hgvsp: ENST00000503451.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.204A>G
  hgvsp: ENST00000514622.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.204A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.439A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.204A>G
  hgvsp: ENST00000379987.2:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.204A>G
  hgvsp: ENST00000305572.8:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.204A>G
  hgvsp: ENST00000506666.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37360
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 3.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 13596
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 127
genotype quality: GenotypeQuality
hgvs: p.Glu68Glu
num of homozygotes: 17
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-106848530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848530
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848530
    reference: chr 4
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.261C>T
  hgvsp: ENST00000453617.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.139C>T
  hgvsp: ENST00000514837.1:c.139C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.414C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.445C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.261C>T
  hgvsp: ENST00000503451.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.210C>T
  hgvsp: ENST00000506666.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.210C>T
  hgvsp: ENST00000427316.2:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.210C>T
  hgvsp: ENST00000305572.8:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-103C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.144G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.129C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.210C>T
  hgvsp: ENST00000379987.2:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.172G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.210C>T
  hgvsp: ENST00000514622.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.210C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile70Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

4-106848531-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848531
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848531
    reference: chr 4
allele count: 2
allele frequency: 1.66013679527193e-5
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.415G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.446G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-102G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.211G>A
  hgvsp: ENSP00000422474.1:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.211G>A
  hgvsp: ENSP00000389252.2:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.262G>A
  hgvsp: ENSP00000402884.2:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.211G>A
  hgvsp: ENSP00000302557.8:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.140G>A
  hgvsp: ENSP00000427507.1:p.Gly48Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.211G>A
  hgvsp: ENSP00000369323.2:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.262G>A
  hgvsp: ENSP00000426146.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.143C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.211G>A
  hgvsp: ENSP00000422044.1:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.130G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.171C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.211G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly71Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-106848537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848537
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848537
    reference: chr 4
allele count: 9
allele frequency: 7.469003634915103e-5
allele num: 120498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.217A>G
  hgvsp: ENSP00000422474.1:p.Asn73Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.268A>G
  hgvsp: ENSP00000402884.2:p.Asn90Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.146A>G
  hgvsp: ENSP00000427507.1:p.Asn50Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.137T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.217A>G
  hgvsp: ENSP00000369323.2:p.Asn73Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.217A>G
  hgvsp: ENSP00000422044.1:p.Asn73Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.136A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.268A>G
  hgvsp: ENSP00000426146.1:p.Asn90Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.452A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.217A>G
  hgvsp: ENSP00000302557.8:p.Asn73Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.217A>G
  hgvsp: ENSP00000389252.2:p.Asn73Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.421A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.217A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-96A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.165T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn73Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

4-106848568-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848568
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848567
    reference: chr 4
allele count: 1
allele frequency: 8.373946976167747e-6
allele num: 119418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.304delA
  hgvsp: ENSP00000402884.2:p.Thr102ProfsTer6
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.253delA
  hgvsp: ENSP00000369323.2:p.Thr85ProfsTer6
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.253delA
  hgvsp: ENSP00000389252.2:p.Thr85ProfsTer36
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.304delA
  hgvsp: ENSP00000426146.1:p.Thr102ProfsTer36
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-60delA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.253delA
  hgvsp: ENSP00000302557.8:p.Thr85ProfsTer6
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.172delA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.253delA
  hgvsp: ENSP00000422474.1:p.Thr85ProfsTer36
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.253delA
  hgvsp: ENSP00000422044.1:p.Thr85ProfsTer6
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.105delT
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.133delT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.457delA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.182delA
  hgvsp: ENSP00000427507.1:p.Thr62ProfsTer6
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.253delA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.488delA
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35844
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr85ProfsTer36
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: GA
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-106848572-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848572
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848572
    reference: chr 4
allele count: 2
allele frequency: 1.679853516773338e-5
allele num: 119058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.171A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.252A>C
  hgvsp: ENSP00000422474.1:p.Lys84Asn
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.252A>C
  hgvsp: ENSP00000302557.8:p.Lys84Asn
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.102T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.252A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.487A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.181A>C
  hgvsp: ENSP00000427507.1:p.Lys61Asn
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-61A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.252A>C
  hgvsp: ENSP00000389252.2:p.Lys84Asn
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.303A>C
  hgvsp: ENSP00000426146.1:p.Lys101Asn
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.303A>C
  hgvsp: ENSP00000402884.2:p.Lys101Asn
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.456A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.252A>C
  hgvsp: ENSP00000422044.1:p.Lys84Asn
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.252A>C
  hgvsp: ENSP00000369323.2:p.Lys84Asn
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.130T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys84Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-106848573-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848573
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848573
    reference: chr 4
allele count: 2
allele frequency: 1.68335998653312e-5
allele num: 118810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.304A>C
  hgvsp: ENSP00000426146.1:p.Thr102Pro
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-60A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.129T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.253A>C
  hgvsp: ENSP00000302557.8:p.Thr85Pro
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.488A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.253A>C
  hgvsp: ENSP00000422044.1:p.Thr85Pro
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.172A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.253A>C
  hgvsp: ENSP00000389252.2:p.Thr85Pro
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.253A>C
  hgvsp: ENSP00000369323.2:p.Thr85Pro
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.457A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.304A>C
  hgvsp: ENSP00000402884.2:p.Thr102Pro
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.253A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.253A>C
  hgvsp: ENSP00000422474.1:p.Thr85Pro
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.101T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.182A>C
  hgvsp: ENSP00000427507.1:p.Thr62Pro
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr85Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

4-106848580-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848580
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848580
    reference: chr 4
allele count: 1
allele frequency: 8.494733265375467e-6
allele num: 117720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.311A>G
  hgvsp: ENSP00000426146.1:p.Asn104Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.260A>G
  hgvsp: ENSP00000369323.2:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.311A>G
  hgvsp: ENSP00000402884.2:p.Asn104Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-6T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.179A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.495A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.260A>G
  hgvsp: ENSP00000422474.1:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.260A>G
  hgvsp: ENSP00000389252.2:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.260A>G
  hgvsp: ENSP00000302557.8:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.464A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.260A>G
  hgvsp: ENSP00000422044.1:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-6T>C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-53A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.189A>G
  hgvsp: ENSP00000427507.1:p.Asn64Ser
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.260A>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn87Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

4-106848587-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848587
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848587
    reference: chr 4
allele count: 1
allele frequency: 8.597417335832316e-6
allele num: 116314
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-13A>G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.186T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+2T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-13A>G
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.265+2T>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-106848595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848595
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848595
    reference: chr 4
allele count: 4
allele frequency: 3.509018176714155e-5
allele num: 113992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.194C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-21G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-21G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+10C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+10C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

4-106848603-CATAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848603
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848599
    reference: chr 4
allele count: 1
allele frequency: 8.993776306795697e-6
allele num: 111188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+22_265+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+22_265+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+22_500+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+22_-48+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+22_265+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-33_100-30delTTAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+22_316+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+22_265+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+22_469+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.206_209delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+22_316+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+22_265+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+22_194+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+22_265+25delAATA
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-33_128-30delTTAT
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: CATAA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

4-106848607-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848607
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848607
    reference: chr 4
allele count: 5
allele frequency: 4.518997867033007e-5
allele num: 110644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.206A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-33T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-33T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+22A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+22A>T
  variant of: http://identifiers.org/hgnc/27405
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16757
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17197
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-106848608-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848608
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848608
    reference: chr 4
allele count: 1
allele frequency: 9.079518422342878e-6
allele num: 110138
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.207A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-34T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+23A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-34T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

4-106848626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848626
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848626
    reference: chr 4
allele count: 1
allele frequency: 9.812387157547688e-6
allele num: 101912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-52G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.225C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+41C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-52G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21542
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

4-106848629-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848629
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848629
    reference: chr 4
allele count: 1
allele frequency: 9.948664889171872e-6
allele num: 100516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-55A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-55A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.228T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+44T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+44T>C
  variant of: http://identifiers.org/hgnc/27405
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

4-106848633-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848633
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848633
    reference: chr 4
allele count: 1
allele frequency: 1.060265490478816e-5
allele num: 94316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-59T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.232A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+48A>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-59T>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-106848636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106848636
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106848636
    reference: chr 4
allele count: 22
allele frequency: 2.443738475551507e-4
allele num: 90026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.265+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.128-62G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.469+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.265+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-48+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.316+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000511518
  gene symbol: NPNT
  hgvsc: ENST00000511518.1:n.235C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.316+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.265+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.265+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000511059
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000511059.1:n.100-62G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.265+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.265+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.500+51C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.194+51C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19709
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-106853858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106853858
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106853858
    reference: chr 4
allele count: 1
allele frequency: 8.161932745674175e-5
allele num: 12252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-4308G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.22C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-4308G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.353G>A
  hgvsp: ENSP00000422474.1:p.Arg118Lys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-4308G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-4308G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-4308G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-4308G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.353G>A
  hgvsp: ENSP00000389252.2:p.Arg118Lys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.404G>A
  hgvsp: ENSP00000426146.1:p.Arg135Lys
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-4308G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-4308G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-4308G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg118Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

4-106853867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106853867
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106853867
    reference: chr 4
allele count: 1
allele frequency: 8.18464560484531e-5
allele num: 12218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.355+7G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000250740
  ensembl transcript: ENST00000512514
  gene symbol: RP11-710F7.2
  hgvsc: ENST00000512514.1:n.13C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-4299G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-4299G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.406+7G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-4299G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.355+7G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-4299G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-4299G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-4299G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-4299G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-4299G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-4299G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.355+7G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

4-106853885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106853885
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106853885
    reference: chr 4
allele count: 31
allele frequency: 2.55060062530854e-3
allele num: 12154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.355+25T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.406+25T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-4281T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.355+25T>C
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

4-106858115-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858115
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858115
    reference: chr 4
allele count: 1
allele frequency: 9.231053263177328e-6
allele num: 108330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.407-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.356-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.356-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-51A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-51A>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14886
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

4-106858126-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858126
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858126
    reference: chr 4
allele count: 2
allele frequency: 1.835502285200345e-5
allele num: 108962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.407-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.356-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-40G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.356-40G>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

4-106858144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858144
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858144
    reference: chr 4
allele count: 1
allele frequency: 8.908209806157355e-6
allele num: 112256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.407-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.356-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.356-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-22C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-22C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-106858146-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858146
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858146
    reference: chr 4
allele count: 2
allele frequency: 1.76522506619594e-5
allele num: 113300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.356-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.407-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.356-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-20T>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-20T>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35044
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

4-106858153-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858153
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858153
    reference: chr 4
allele count: 8
allele frequency: 6.868721559199794e-5
allele num: 116470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.407-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.356-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.356-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-13A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-13A>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37691
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

4-106858155-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858155
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858155
    reference: chr 4
allele count: 2
allele frequency: 1.708817498291182e-5
allele num: 117040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.407-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.356-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-11A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.356-11A>G
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9567
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

4-106858158-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858158
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858158
    reference: chr 4
allele count: 15
allele frequency: 1.275141540711019e-4
allele num: 117634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.407-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.356-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.356-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.470-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-47-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.266-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.317-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.266-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.266-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.501-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.266-8G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.195-8G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4422
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38234
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.356-8G>A
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/4-106858170-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858170
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858170
    reference: chr 4
allele count: 21
allele frequency: 1.755441869796369e-4
allele num: 119628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.270A>C
  hgvsp: ENST00000379987.2:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.360A>C
  hgvsp: ENST00000427316.2:c.360A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.505A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.411A>C
  hgvsp: ENST00000503451.1:c.411A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-43A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.321A>C
  hgvsp: ENST00000453617.2:c.321A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.270A>C
  hgvsp: ENST00000305572.8:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.270A>C
  hgvsp: ENST00000514622.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.199A>C
  hgvsp: ENST00000514837.1:c.199A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.474A>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.360A>C
  hgvsp: ENST00000506666.1:c.360A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.270A>C
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38766
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu120Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

4-106858176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858176
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858176
    reference: chr 4
allele count: 2
allele frequency: 1.664225802156837e-5
allele num: 120176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.417G>A
  hgvsp: ENST00000503451.1:c.417G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.366G>A
  hgvsp: ENST00000506666.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.205G>A
  hgvsp: ENST00000514837.1:c.205G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.480G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.276G>A
  hgvsp: ENST00000379987.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.276G>A
  hgvsp: ENST00000305572.8:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.511G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.366G>A
  hgvsp: ENST00000427316.2:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.276G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.276G>A
  hgvsp: ENST00000514622.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.327G>A
  hgvsp: ENST00000453617.2:c.327G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu122Glu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

4-106858176-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858176
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858176
    reference: chr 4
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.276G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.366G>T
  hgvsp: ENSP00000389252.2:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.480G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-37G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.276G>T
  hgvsp: ENSP00000369323.2:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.205G>T
  hgvsp: ENSP00000427507.1:p.Glu69Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.276G>T
  hgvsp: ENSP00000302557.8:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.417G>T
  hgvsp: ENSP00000426146.1:p.Glu139Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.511G>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.276G>T
  hgvsp: ENSP00000422044.1:p.Glu92Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.327G>T
  hgvsp: ENSP00000402884.2:p.Glu109Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.366G>T
  hgvsp: ENSP00000422474.1:p.Glu122Asp
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu122Asp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

4-106858177-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858177
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858177
    reference: chr 4
allele count: 1
allele frequency: 8.316146630297385e-6
allele num: 120248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-36T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.328T>C
  hgvsp: ENSP00000402884.2:p.Cys110Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.277T>C
  hgvsp: ENSP00000422044.1:p.Cys93Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.512T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.481T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.418T>C
  hgvsp: ENSP00000426146.1:p.Cys140Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.277T>C
  hgvsp: ENSP00000302557.8:p.Cys93Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.367T>C
  hgvsp: ENSP00000389252.2:p.Cys123Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.367T>C
  hgvsp: ENSP00000422474.1:p.Cys123Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.206T>C
  hgvsp: ENSP00000427507.1:p.Cys70Arg
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.277T>C
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.277T>C
  hgvsp: ENSP00000369323.2:p.Cys93Arg
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys123Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/4-106858183-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858183
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858183
    reference: chr 4
allele count: 1
allele frequency: 8.297515723792297e-6
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.212C>A
  hgvsp: ENSP00000427507.1:p.Leu72Met
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.283C>A
  hgvsp: ENSP00000422044.1:p.Leu95Met
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.283C>A
  hgvsp: ENSP00000302557.8:p.Leu95Met
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.424C>A
  hgvsp: ENSP00000426146.1:p.Leu142Met
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.283C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-30C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.373C>A
  hgvsp: ENSP00000389252.2:p.Leu125Met
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.373C>A
  hgvsp: ENSP00000422474.1:p.Leu125Met
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.334C>A
  hgvsp: ENSP00000402884.2:p.Leu112Met
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.283C>A
  hgvsp: ENSP00000369323.2:p.Leu95Met
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.518C>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.487C>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu125Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-106858192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858192
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858192
    reference: chr 4
allele count: 4
allele frequency: 3.31092937787637e-5
allele num: 120812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.343C>T
  hgvsp: ENSP00000402884.2:p.Arg115Trp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.292C>T
  hgvsp: ENSP00000422044.1:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.382C>T
  hgvsp: ENSP00000389252.2:p.Arg128Trp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.292C>T
  hgvsp: ENSP00000302557.8:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.496C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.433C>T
  hgvsp: ENSP00000426146.1:p.Arg145Trp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.292C>T
  hgvsp: ENSP00000369323.2:p.Arg98Trp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.221C>T
  hgvsp: ENSP00000427507.1:p.Arg75Trp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.382C>T
  hgvsp: ENSP00000422474.1:p.Arg128Trp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.527C>T
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.292C>T
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg128Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

4-106858193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858193
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858193
    reference: chr 4
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.293G>A
  hgvsp: ENSP00000302557.8:p.Arg98Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.497G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.293G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.293G>A
  hgvsp: ENSP00000422044.1:p.Arg98Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.383G>A
  hgvsp: ENSP00000422474.1:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.434G>A
  hgvsp: ENSP00000426146.1:p.Arg145Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.383G>A
  hgvsp: ENSP00000389252.2:p.Arg128Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.344G>A
  hgvsp: ENSP00000402884.2:p.Arg115Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.222G>A
  hgvsp: ENSP00000427507.1:p.Arg75Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.293G>A
  hgvsp: ENSP00000369323.2:p.Arg98Gln
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.528G>A
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg128Gln
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

4-106858203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858203
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858203
    reference: chr 4
allele count: 2
allele frequency: 1.652619401751776e-5
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.232G>A
  hgvsp: ENST00000514837.1:c.232G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.393G>A
  hgvsp: ENST00000427316.2:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.393G>A
  hgvsp: ENST00000506666.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.303G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.303G>A
  hgvsp: ENST00000514622.1:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.354G>A
  hgvsp: ENST00000453617.2:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.538G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.444G>A
  hgvsp: ENST00000503451.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.303G>A
  hgvsp: ENST00000379987.2:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000506056
  gene symbol: NPNT
  hgvsc: ENST00000506056.1:n.507G>A
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.303G>A
  hgvsp: ENST00000305572.8:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys131Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

4-106858216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 106858216
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 106858216
    reference: chr 4
allele count: 1
allele frequency: 8.256002113536541e-6
allele num: 121124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426146
  ensembl transcript: ENST00000503451
  gene symbol: NPNT
  hgvsc: ENST00000503451.1:c.457A>G
  hgvsp: ENSP00000426146.1:p.Asn153Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000302557
  ensembl transcript: ENST00000305572
  gene symbol: NPNT
  hgvsc: ENST00000305572.8:c.316A>G
  hgvsp: ENSP00000302557.8:p.Asn106Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000505821
  gene symbol: NPNT
  hgvsc: ENST00000505821.1:n.316A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000389252
  ensembl transcript: ENST00000427316
  gene symbol: NPNT
  hgvsc: ENST00000427316.2:c.406A>G
  hgvsp: ENSP00000389252.2:p.Asn136Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422474
  ensembl transcript: ENST00000506666
  gene symbol: NPNT
  hgvsc: ENST00000506666.1:c.406A>G
  hgvsp: ENSP00000422474.1:p.Asn136Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000426951
  ensembl transcript: ENST00000504304
  gene symbol: NPNT
  hgvsc: ENST00000504304.1:c.4A>G
  hgvsp: ENSP00000426951.1:p.Asn2Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000422044
  ensembl transcript: ENST00000514622
  gene symbol: NPNT
  hgvsc: ENST00000514622.1:c.316A>G
  hgvsp: ENSP00000422044.1:p.Asn106Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000402884
  ensembl transcript: ENST00000453617
  gene symbol: NPNT
  hgvsc: ENST00000453617.2:c.367A>G
  hgvsp: ENSP00000402884.2:p.Asn123Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000427507
  ensembl transcript: ENST00000514837
  gene symbol: NPNT
  hgvsc: ENST00000514837.1:c.245A>G
  hgvsp: ENSP00000427507.1:p.Asn83Asp
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168743
  ensembl transcript: ENST00000513430
  gene symbol: NPNT
  hgvsc: ENST00000513430.1:n.551A>G
  variant of: http://identifiers.org/hgnc/27405
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168743
  ensembl protein: ENSP00000369323
  ensembl transcript: ENST00000379987
  gene symbol: NPNT
  hgvsc: ENST00000379987.2:c.316A>G
  hgvsp: ENSP00000369323.2:p.Asn106Asp
  variant of: http://identifiers.org/hgnc/27405
canonical: true
consequence: missense
filter: PASS
hgvs: p.Asn136Asp
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 2264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

FS
type: SiteQuality
SIO_000300: 4.801e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.879915e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 1.692e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38440
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7721
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

FS
type: SiteQuality
SIO_000300: 4.801e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

DP
type: SiteQuality
SIO_000300: 1.879915e6

QD
type: SiteQuality
SIO_000300: 1.692e1

MQRankSum
type: SiteQuality
SIO_000300: -1.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7666
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5427
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.812e0

DP
type: SiteQuality
SIO_000300: 1.873757e6

MQ
type: SiteQuality
SIO_000300: 5.994e1

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

QD
type: SiteQuality
SIO_000300: 1.534e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
all individuals: 134
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.98e0

DP
type: SiteQuality
SIO_000300: 1.873757e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

FS
type: SiteQuality
SIO_000300: 2.812e0

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.534e1

GenotypeQuality
all individuals: 1324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2332
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15652
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.464403256539061e-4
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 4.002e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

DP
type: SiteQuality
SIO_000300: 1.864551e6

GenotypeQuality
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 587
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variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732801940738174e-4
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018685664261781e-5
allele num: 66254
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.679e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

DP
type: SiteQuality
SIO_000300: 1.862289e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.536802196365538e-5
allele num: 15298
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.85286e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.551e1

FS
type: SiteQuality
SIO_000300: 2.724e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.66e-1

GenotypeQuality
all individuals: 37272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1346
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15304
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.733402669440111e-4
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.931620629708325e-4
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66128
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 1.851686e6

FS
type: SiteQuality
SIO_000300: 9.273e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

GenotypeQuality
all individuals: 1912
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 93

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 28
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GenotypeQuality
all individuals: 155
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

African
type: Population
allele count: 91
allele frequency: 8.78887386517288e-3
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15282
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.831e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.209e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 1.855065e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.575987151125791e-5
allele num: 65998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.476e0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.842369e6

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 3.867e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.31e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.064671168704752e-4
allele num: 65748
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.90035881865857e-5
allele num: 14492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 1.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.685e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.197e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.123521869212138e-5
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6444
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.793e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 555
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65292
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.744316194473592e-5
allele num: 11436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 1.776942e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540832049306625e-5
allele num: 64900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.519e0

QD
type: SiteQuality
SIO_000300: 8.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.718674e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.209757663296421e-4
allele num: 12462
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64422
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

DP
type: SiteQuality
SIO_000300: 1.632492e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

FS
type: SiteQuality
SIO_000300: 6.087e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581427712939242e-5
allele num: 63234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

DP
type: SiteQuality
SIO_000300: 1.554498e6

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

QD
type: SiteQuality
SIO_000300: 1.004e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582278481012658e-5
allele num: 63200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

DP
type: SiteQuality
SIO_000300: 1.554519e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 1651
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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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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582278481012658e-5
allele num: 63200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -7.22e-1

InbreedingCoeff
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SIO_000300: 4.0e-3

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.554519e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.312680493567866e-4
allele num: 7618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3620
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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SIO_000300: 2.21706e5

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeDepth
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variant carriers: 0

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: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.88e-2

ReadPosRankSum
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FS
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MQ
type: SiteQuality
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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QD
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SIO_000300: 2.127e1

BaseQRankSum
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SIO_000300: -1.141e0

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

GenotypeQuality
all individuals: 3858
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.229348317509527e-5
allele num: 61932
num of homozygotes: 0

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

South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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Latino
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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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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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele num: 63506
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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South Asian
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European (Finnish)
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QD
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DP
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Other
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Latino
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European (Non-Finnish)
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African
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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DP
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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DP
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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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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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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African
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European (Non-Finnish)
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South Asian
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DP
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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African
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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South Asian
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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MQRankSum
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MQ
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FS
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 66310
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Other
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East Asian
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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FS
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ReadPosRankSum
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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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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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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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VQSLOD
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FS
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ClippingRankSum
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QD
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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Other
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South Asian
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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DP
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QD
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.564357674738752e-5
allele num: 63924
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DP
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MQRankSum
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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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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South Asian
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 60850
num of homozygotes: 0

Other
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European (Finnish)
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African
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South Asian
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East Asian
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Latino
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DP
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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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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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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Other
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South Asian
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ReadPosRankSum
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DP
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
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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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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6972
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.208765859284891e-5
allele num: 13872
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8782
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55004
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 1.08e-1

DP
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BaseQRankSum
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VQSLOD
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SIO_000300: -6.699000000000001e-1

MQRankSum
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SIO_000300: -5.39e-1

ClippingRankSum
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SIO_000300: -1.08e-1

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 5.393e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

QD
type: SiteQuality
SIO_000300: 1.825e1

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: 5.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51336
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

DP
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SIO_000300: 1.068458e6

ClippingRankSum
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SIO_000300: 3.21e-1

InbreedingCoeff
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SIO_000300: -6.7e-3

MQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

QD
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.04e-1

ReadPosRankSum
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SIO_000300: 6.860000000000001e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.240694789081886e-4
allele num: 8060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.084133142740453e-5
allele num: 48970
num of homozygotes: 0

East Asian
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allele count: 19
allele frequency: 3.132212331025387e-3
allele num: 6066
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: 12842
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

BaseQRankSum
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SIO_000300: -1.932e0

InbreedingCoeff
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SIO_000300: -8.800000000000001e-3

QD
type: SiteQuality
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 4.21e-1

MQRankSum
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SIO_000300: 2.89e-1

MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.063516e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 119
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.316482359136387e-4
allele num: 7596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.59e-2

QD
type: SiteQuality
SIO_000300: 1.341e1

FS
type: SiteQuality
SIO_000300: 1.504e0

ClippingRankSum
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SIO_000300: -9.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

ReadPosRankSum
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SIO_000300: 4.28e-1

BaseQRankSum
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SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 2.03243e5

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.321353065539112e-4
allele num: 7568
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 4.39e-1

FS
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 2.0216e5

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6
allele frequency: 1.69971671388102e-3
allele num: 3530
num of homozygotes: 0

South Asian
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allele frequency: 3.317409766454353e-3
allele num: 7536
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 2.38e0

FS
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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QD
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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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allele count: 0
allele frequency: 0.0e0
allele num: 14964
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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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

Latino
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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: 1.691532189857573e-5
allele num: 59118
num of homozygotes: 0

East Asian
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.362474781439139e-5
allele num: 59480
num of homozygotes: 0

African
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FS
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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SIO_000300: 1.35e-1

InbreedingCoeff
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SIO_000300: 9.0e-4

VQSLOD
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SIO_000300: 7.19e-1

QD
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SIO_000300: 9.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.62887672660933e-5
allele num: 61392
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10786
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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.32e0

ReadPosRankSum
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SIO_000300: -1.313e0

BaseQRankSum
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SIO_000300: -2.573e0

QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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DP
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SIO_000300: 1.409397e6

ClippingRankSum
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SIO_000300: 1.31e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62016
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.840264998159735e-4
allele num: 10868
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
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SIO_000300: 1.429112e6

MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: 4.08e0

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

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

African
type: Population
allele count: 3
allele frequency: 2.980922098569157e-4
allele num: 10064
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 9.028530155290719e-5
allele num: 11076
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.255650426921145e-4
allele num: 15928
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.127443315089914e-5
allele num: 63950
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InbreedingCoeff
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FS
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SIO_000300: 4.162e0

MQRankSum
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -2.835e0

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
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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European (Non-Finnish)
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allele count: 2
allele frequency: 3.111484489249821e-5
allele num: 64278
num of homozygotes: 0

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

Other
type: Population
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 15
allele frequency: 2.320400965286802e-4
allele num: 64644
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South Asian
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Latino
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num of homozygotes: 0

DP
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QD
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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variant carriers: 4

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: 21

Latino
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allele count: 2
allele frequency: 1.764913519237557e-4
allele num: 11332
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.888415931894193e-4
allele num: 65780
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.512950859356088e-5
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InbreedingCoeff
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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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QD
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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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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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
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European (Finnish)
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South Asian
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East Asian
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African
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Other
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Latino
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MQ
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SIO_000300: 6.0e1

FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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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 (Non-Finnish)
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allele frequency: 3.008876184744998e-5
allele num: 66470
num of homozygotes: 0

Latino
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allele num: 11428
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South Asian
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African
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European (Finnish)
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East Asian
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Other
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allele num: 904
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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DP
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QD
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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South Asian
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Latino
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African
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FS
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MQ
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QD
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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