1-16894544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894544
    reference: chr 1
allele count: 355
allele frequency: 3.027976799727056e-3
allele num: 117240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-19C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-19C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-19C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-19C>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 9.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 35049
  bin: 9.75e1
  variant carriers: 217
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-16894544-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894544
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894544
    reference: chr 1
allele count: 1
allele frequency: 8.529512111907199e-6
allele num: 117240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-19C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-19C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-19C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-19C>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35049
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7343
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-16894547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894547
    reference: chr 1
allele count: 8
allele frequency: 6.819770514722179e-5
allele num: 117306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-22C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-22C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-22C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-22C>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35269
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-16894547-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894547
    reference: chr 1
allele count: 391
allele frequency: 3.333162839070465e-3
allele num: 117306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-22C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-22C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-22C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-22C>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 5.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 9.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 5.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4937
  bin: 3.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 35269
  bin: 9.75e1
  variant carriers: 266
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-16894548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894548
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894548
    reference: chr 1
allele count: 3
allele frequency: 2.554104445844472e-5
allele num: 117458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-23G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-23G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-23G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-23G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-16894549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894549
    reference: chr 1
allele count: 1
allele frequency: 8.512376996152406e-6
allele num: 117476
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-24G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-24G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-24G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-24G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35422
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

1-16894549-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894548
    reference: chr 1
allele count: 1
allele frequency: 8.512376996152406e-6
allele num: 117476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-25delA
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-25delA
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-25delA
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-25delA
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35422
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: CT
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

1-16894554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894554
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894554
    reference: chr 1
allele count: 1
allele frequency: 8.516146613980106e-6
allele num: 117424
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-29T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-29T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-29T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-29T>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35430
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-16894555-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894555
    reference: chr 1
allele count: 2
allele frequency: 1.703983914391848e-5
allele num: 117372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-30G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-30G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-30G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-30G>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7542
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-16894555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894555
    reference: chr 1
allele count: 8
allele frequency: 6.815935657567393e-5
allele num: 117372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-30G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-30G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-30G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-30G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3474
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35426
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-16894556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894556
    reference: chr 1
allele count: 2
allele frequency: 1.703606535034668e-5
allele num: 117398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-31T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-31T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-31T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-31T>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35437
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.25e1
  variant carriers: 0
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: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

1-16894562-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894562
    reference: chr 1
allele count: 3
allele frequency: 2.567130461570057e-5
allele num: 116862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-37G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-37G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-37G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-37G>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7714
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35436
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-16894562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894562
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894562
    reference: chr 1
allele count: 2
allele frequency: 1.711420307713371e-5
allele num: 116862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-37G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-37G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-37G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-37G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35436
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-16894564-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894564
    reference: chr 1
allele count: 1
allele frequency: 8.561643835616438e-6
allele num: 116800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-39C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-39C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-39C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-39C>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-16894565-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894565
    reference: chr 1
allele count: 1
allele frequency: 8.557540905045526e-6
allele num: 116856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-40A>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-40A>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-40A>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-40A>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

1-16894565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894565
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894565
    reference: chr 1
allele count: 1
allele frequency: 8.557540905045526e-6
allele num: 116856
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-40A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-40A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-40A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-40A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-16894566-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894566
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894566
    reference: chr 1
allele count: 1
allele frequency: 8.559738414394057e-6
allele num: 116826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-41A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-41A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-41A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-41A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35441
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-16894567-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894567
    reference: chr 1
allele count: 1
allele frequency: 8.559884955146204e-6
allele num: 116824
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-42G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-42G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-42G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-42G>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-16894567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894567
    reference: chr 1
allele count: 2
allele frequency: 1.711976991029241e-5
allele num: 116824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-42G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-42G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-42G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-42G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35443
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-16894569-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894568
    reference: chr 1
allele count: 1
allele frequency: 8.556662217202314e-6
allele num: 116868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-45delG
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-45delG
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-45delG
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-45delG
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: TC
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-16894574-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894574
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894574
    reference: chr 1
allele count: 1
allele frequency: 8.548323673727582e-6
allele num: 116982
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-49C>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-49C>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-49C>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-49C>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-16894575-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894575
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894575
    reference: chr 1
allele count: 2
allele frequency: 1.709255619177848e-5
allele num: 117010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-50G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-50G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-50G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-50G>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1488
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genotype quality: GenotypeQuality
  all individuals: 1745
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35448
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

1-16894575-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894575
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894575
    reference: chr 1
allele count: 1
allele frequency: 8.54627809588924e-6
allele num: 117010
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-50G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-50G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-50G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-50G>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

1-16894575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16894575
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16894575
    reference: chr 1
allele count: 1
allele frequency: 8.54627809588924e-6
allele num: 117010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1483-50G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*167-50G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-50G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2615-50G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

1-16895518-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895518
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895518
    reference: chr 1
allele count: 2
allele frequency: 1.695777513990164e-5
allele num: 117940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-993A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+50A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+50A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+50A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57337
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-16895520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895520
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895520
    reference: chr 1
allele count: 2
allele frequency: 1.695720002713152e-5
allele num: 117944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+48G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+48G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+48G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-995G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 226
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 538
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genotype quality: GenotypeQuality
  all individuals: 94
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 236
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57341
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

1-16895521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895521
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895521
    reference: chr 1
allele count: 12
allele frequency: 1.017535528948886e-4
allele num: 117932
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+47G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+47G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-996G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+47G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57327
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-16895522-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895522
    reference: chr 1
allele count: 1
allele frequency: 8.478456242687331e-6
allele num: 117946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-997A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+46A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+46A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+46A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57335
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

1-16895522-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895522
    reference: chr 1
allele count: 1
allele frequency: 8.478456242687331e-6
allele num: 117946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-997A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+46A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+46A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+46A>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-16895524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895524
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895524
    reference: chr 1
allele count: 1
allele frequency: 8.477881207928515e-6
allele num: 117954
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+44C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+44C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-999C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+44C>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57340
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-16895525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895525
    reference: chr 1
allele count: 15
allele frequency: 1.2717684364031e-4
allele num: 117946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+43C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+43C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+43C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1000C>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57335
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-16895525-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895525
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895525
    reference: chr 1
allele count: 1
allele frequency: 8.478456242687331e-6
allele num: 117946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+43C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+43C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1000C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+43C>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

1-16895526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895526
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895526
    reference: chr 1
allele count: 3
allele frequency: 2.5435368728062e-5
allele num: 117946
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+42G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1001G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+42G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+42G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum

1-16895528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895528
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895528
    reference: chr 1
allele count: 1
allele frequency: 8.476443962228966e-6
allele num: 117974
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+40T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1003T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+40T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+40T>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 873
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

1-16895529-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895529
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895529
    reference: chr 1
allele count: 1
allele frequency: 8.475869200386499e-6
allele num: 117982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+39A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+39A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1004A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+39A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 317
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57343
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-16895532-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895532
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895532
    reference: chr 1
allele count: 1
allele frequency: 8.474145382438182e-6
allele num: 118006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+36T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1007T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+36T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+36T>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 422
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genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 650
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-16895536-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895536
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895536
    reference: chr 1
allele count: 1
allele frequency: 8.471417437565653e-6
allele num: 118044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+32C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+32C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+32C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1011C>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

1-16895538-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895538
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895538
    reference: chr 1
allele count: 1
allele frequency: 8.468978133098461e-6
allele num: 118078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+30C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+30C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+30C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1013C>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57348
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-16895539-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895539
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895539
    reference: chr 1
allele count: 2
allele frequency: 1.693680876649222e-5
allele num: 118086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1014G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+29G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+29G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+29G>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-16895539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895539
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895539
    reference: chr 1
allele count: 2
allele frequency: 1.693680876649222e-5
allele num: 118086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+29G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+29G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1014G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+29G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57346
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

1-16895543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895543
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895543
    reference: chr 1
allele count: 2
allele frequency: 1.692591526886816e-5
allele num: 118162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1018T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+25T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+25T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+25T>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-16895546-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895546
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895546
    reference: chr 1
allele count: 1
allele frequency: 8.458948721852847e-6
allele num: 118218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+22T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1021T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+22T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+22T>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57348
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-16895546-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895546
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895546
    reference: chr 1
allele count: 1
allele frequency: 8.458948721852847e-6
allele num: 118218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+22T>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1021T>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+22T>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+22T>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57348
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-16895547-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895547
    reference: chr 1
allele count: 2
allele frequency: 1.69090294217112e-5
allele num: 118280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+21G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1022G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+21G>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+21G>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52686
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
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genotype quality: GenotypeQuality
  all individuals: 141
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
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genotype quality: GenotypeQuality
  all individuals: 219
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57347
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-16895548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895548
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895548
    reference: chr 1
allele count: 2
allele frequency: 1.690274162469152e-5
allele num: 118324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+20G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+20G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+20G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1023G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52687
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57346
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-16895549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895549
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895549
    reference: chr 1
allele count: 1
allele frequency: 8.448086508405846e-6
allele num: 118370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+19A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1024A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+19A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+19A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57348
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

1-16895550-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895550
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895550
    reference: chr 1
allele count: 1
allele frequency: 8.446088616361763e-6
allele num: 118398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+18A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1025A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+18A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+18A>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57349
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-16895552-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895552
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895552
    reference: chr 1
allele count: 2
allele frequency: 1.687763713080169e-5
allele num: 118500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1027T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+16T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+16T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+16T>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 490
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genotype quality: GenotypeQuality
  all individuals: 541
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-16895555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895555
    reference: chr 1
allele count: 1
allele frequency: 8.418358756776778e-6
allele num: 118788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+13T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+13T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1030T>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+13T>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57351
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

1-16895556-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895556
    reference: chr 1
allele count: 1
allele frequency: 8.416941620092923e-6
allele num: 118808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+12A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1031A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+12A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+12A>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-16895557-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895557
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895557
    reference: chr 1
allele count: 1
allele frequency: 8.407883231317684e-6
allele num: 118936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+11C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+11C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1032C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+11C>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52688
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-16895561-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895561
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895561
    reference: chr 1
allele count: 1
allele frequency: 8.398138972403716e-6
allele num: 119074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1036A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+7A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+7A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+7A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52688
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2614+7A>G
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-16895563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895563
    reference: chr 1
allele count: 7
allele frequency: 5.876624466906209e-5
allele num: 119116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1038G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+5G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+5G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+5G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52691
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57350
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
hgvs: c.2614+5G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-16895564-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895564
    reference: chr 1
allele count: 1
allele frequency: 8.395741679819996e-6
allele num: 119108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+4A>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1039A>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+4A>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+4A>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2614+4A>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

1-16895564-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895564
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895564
    reference: chr 1
allele count: 1
allele frequency: 8.395741679819996e-6
allele num: 119108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+4A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+4A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+4A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1039A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 52691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2614+4A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-16895567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895567
    reference: chr 1
allele count: 14
allele frequency: 1.174417824307094e-4
allele num: 119208
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2614+1G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1482+1G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*166+1G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1042G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52692
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57343
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2614+1G>A
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

1-16895569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895569
    reference: chr 1
allele count: 20
allele frequency: 1.677345768056627e-4
allele num: 119236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*165C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2613C>T
  hgvsp: ENST00000430580.2:c.2613C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1481C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1044C>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52694
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57349
  bin: 9.75e1
  variant carriers: 18
hgvs: c.2613C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

1-16895569-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895569
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895569
    reference: chr 1
allele count: 4
allele frequency: 3.354691536113254e-5
allele num: 119236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1481C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*165C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2613C>A
  hgvsp: ENST00000430580.2:c.2613C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1044C>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52694
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57349
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2613C>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

1-16895570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895570
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895570
    reference: chr 1
allele count: 1
allele frequency: 8.38841727342885e-6
allele num: 119212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*164G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2612G>A
  hgvsp: ENSP00000474456.1:p.Gly871Asp
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1045G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1480G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 52694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly871Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

1-16895571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895571
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895571
    reference: chr 1
allele count: 2
allele frequency: 1.677570877369569e-5
allele num: 119220
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2611G>A
  hgvsp: ENSP00000474456.1:p.Gly871Ser
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1479G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1046G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*163G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52694
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57353
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly871Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-16895574-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895574
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895574
    reference: chr 1
allele count: 1
allele frequency: 8.385322331790435e-6
allele num: 119256
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2608A>G
  hgvsp: ENSP00000474456.1:p.Ile870Val
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1049A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1476A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*160A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52694
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile870Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

1-16895576-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895576
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895576
    reference: chr 1
allele count: 1
allele frequency: 8.387291575804341e-6
allele num: 119228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1474A>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*158A>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2606A>T
  hgvsp: ENSP00000474456.1:p.Asp869Val
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1051A>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp869Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-16895577-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895577
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895577
    reference: chr 1
allele count: 1
allele frequency: 8.385884878572387e-6
allele num: 119248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*157G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1473G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1052G>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2605G>C
  hgvsp: ENSP00000474456.1:p.Asp869His
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp869His
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-16895578-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895578
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895578
    reference: chr 1
allele count: 5
allele frequency: 4.192309627219828e-5
allele num: 119266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1053T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2604T>G
  hgvsp: ENST00000430580.2:c.2604T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1472T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*156T>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52694
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Val868Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-16895580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895580
    reference: chr 1
allele count: 2
allele frequency: 1.677148846960168e-5
allele num: 119250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1055G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1470G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*154G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2602G>A
  hgvsp: ENSP00000474456.1:p.Val868Ile
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52695
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57353
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val868Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-16895582-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895582
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895582
    reference: chr 1
allele count: 1
allele frequency: 8.383635144198524e-6
allele num: 119280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*152C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2600C>A
  hgvsp: ENSP00000474456.1:p.Ala867Asp
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1468C>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1057C>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52695
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala867Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-16895586-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895586
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895586
    reference: chr 1
allele count: 8723
allele frequency: 8.143355925241323e-2
allele num: 107118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*199A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1464A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*148A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2596A>G
  hgvsp: ENSP00000474456.1:p.Met866Val
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1061A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54408
  bin: 9.75e1
  variant carriers: 8790
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.5e0
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 49145
  bin: 9.75e1
  variant carriers: 7676
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 2.5e0
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 61
hgvs: p.Met866Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-16895586-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895586
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895586
    reference: chr 1
allele count: 1
allele frequency: 9.335499169140573e-6
allele num: 107118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*148A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1061A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1464A>C
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2596A>C
  hgvsp: ENSP00000474456.1:p.Met866Leu
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*199A>C
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54408
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met866Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-16895589-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895589
    reference: chr 1
allele count: 2
allele frequency: 1.671569938486226e-5
allele num: 119648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*145T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*196T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1461T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1064T>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2593T>G
  hgvsp: ENSP00000474456.1:p.Cys865Gly
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53849
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys865Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

1-16895591-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895591
    reference: chr 1
allele count: 1
allele frequency: 8.353521009105338e-6
allele num: 119710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1066T>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1459T>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*143T>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2591T>A
  hgvsp: ENSP00000474456.1:p.Val864Asp
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*194T>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val864Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

1-16895595-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895595
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895595
    reference: chr 1
allele count: 5
allele frequency: 4.173971116119877e-5
allele num: 119790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1455C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*190C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2587C>T
  hgvsp: ENSP00000474456.1:p.Gln863Ter
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1070C>T
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*139C>T
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53851
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57226
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln863Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-16895596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895596
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895596
    reference: chr 1
allele count: 2
allele frequency: 1.669449081803005e-5
allele num: 119800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1071G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2586G>A
  hgvsp: ENST00000430580.2:c.2586G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*138G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*189G>A
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1454G>A
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53849
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57228
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln862Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-16895598-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895598
    reference: chr 1
allele count: 1
allele frequency: 8.344041519950603e-6
allele num: 119846
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2584C>G
  hgvsp: ENSP00000474456.1:p.Gln862Glu
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1073C>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1452C>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*136C>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*187C>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln862Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum

1-16895598-GTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895598
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895596
    reference: chr 1
allele count: 1
allele frequency: 8.344041519950603e-6
allele num: 119846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*185_*186delAA
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1450_*1451delAA
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*134_*135delAA
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1075_825-1074delAA
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2582_2583delAA
  hgvsp: ENSP00000474456.1:p.Glu861AlafsTer8
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53849
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu861AlafsTer8
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: GTT
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-16895600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16895600
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 16895600
    reference: chr 1
allele count: 153
allele frequency: 1.277896565548577e-3
allele num: 119728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474816
  ensembl transcript: ENST00000287968
  gene symbol: NBPF1
  hgvsc: ENST00000287968.8:c.*185A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474456
  ensembl transcript: ENST00000430580
  gene symbol: NBPF1
  hgvsc: ENST00000430580.2:c.2582A>G
  hgvsp: ENSP00000474456.1:p.Glu861Gly
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473795
  ensembl transcript: ENST00000392963
  gene symbol: NBPF1
  hgvsc: ENST00000392963.5:c.*1450A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000474352
  ensembl transcript: ENST00000420031
  gene symbol: NBPF1
  hgvsc: ENST00000420031.2:c.*134A>G
  variant of: http://identifiers.org/hgnc/26088
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000219481
  ensembl protein: ENSP00000473697
  ensembl transcript: ENST00000432949
  gene symbol: NBPF1
  hgvsc: ENST00000432949.1:c.825-1075A>G
  variant of: http://identifiers.org/hgnc/26088
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53853
  bin: 9.75e1
  variant carriers: 158
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 3
hgvs: p.Glu861Gly
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2549
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 7343
bin: 6.25e1
variant carriers: 14

GenotypeQuality
all individuals: 153
bin: 2.75e1
variant carriers: 9

Latino
type: Population
allele count: 7
allele frequency: 6.157635467980296e-4
allele num: 11368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

African
type: Population
allele count: 302
allele frequency: 3.231328910763964e-2
allele num: 9346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 46
allele frequency: 7.159978831366933e-4
allele num: 64246
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 3.078e1

DP
type: SiteQuality
SIO_000300: 3.19669e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.704e0

VQSLOD
type: SiteQuality
SIO_000300: -4.207e0

QD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 362
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2676
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
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: 1
allele frequency: 1.556517137253681e-5
allele num: 64246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.207e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 3.078e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.704e0

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.19669e6

QD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 8.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
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: 8
allele frequency: 8.394543546694648e-4
allele num: 9530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.209806e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.125e0

VQSLOD
type: SiteQuality
SIO_000300: -4.413e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 3.077e1

MQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 400
bin: 4.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2654
bin: 7.75e1
variant carriers: 12

South Asian
type: Population
allele count: 77
allele frequency: 4.687119551984417e-3
allele num: 16428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 30
allele frequency: 4.564820450395618e-3
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 268
allele frequency: 4.176146102783058e-3
allele num: 64174
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.681394120753388e-4
allele num: 11362
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.147953830010493e-4
allele num: 9530
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.267573696145125e-3
allele num: 882
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.077e1

MQRankSum
type: SiteQuality
SIO_000300: -8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.125e0

VQSLOD
type: SiteQuality
SIO_000300: -4.413e0

QD
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 3.209806e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64256
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.142019271051529e-4
allele num: 9548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 3.751e0

DP
type: SiteQuality
SIO_000300: 3.213673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.59e-1

MQ
type: SiteQuality
SIO_000300: 3.128e1

VQSLOD
type: SiteQuality
SIO_000300: -4.696e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.501e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

GenotypeQuality
all individuals: 2541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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: 8360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556178026766262e-5
allele num: 64260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.878e-1

DP
type: SiteQuality
SIO_000300: 3.214982e6

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 3.369e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
all individuals: 1711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64260
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.369e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.47e-1

QD
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: -3.878e-1

FS
type: SiteQuality
SIO_000300: 6.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 3.214982e6

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

GenotypeQuality
all individuals: 2543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.047559187094071e-4
allele num: 9546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
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Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQ
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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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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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South Asian
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allele num: 16462
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6578
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East Asian
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allele frequency: 7.177033492822966e-4
allele num: 8360
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Latino
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allele frequency: 8.787346221441125e-5
allele num: 11380
num of homozygotes: 0

South Asian
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African
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allele frequency: 1.04887770086008e-4
allele num: 9534
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Other
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allele num: 880
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6578
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South Asian
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Other
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African
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allele frequency: 2.095118374188141e-4
allele num: 9546
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64186
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East Asian
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allele frequency: 0.0e0
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Latino
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QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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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 num: 9314
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6578
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South Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 3.551e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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QD
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DP
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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 num: 9314
num of homozygotes: 0

Latino
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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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Other
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European (Non-Finnish)
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allele count: 2
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allele num: 63874
num of homozygotes: 0

East Asian
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South Asian
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num of homozygotes: 0

VQSLOD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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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
allele num: 6580
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European (Non-Finnish)
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Latino
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African
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South Asian
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East Asian
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Other
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DP
type: SiteQuality
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 63862
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East Asian
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European (Finnish)
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South Asian
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allele num: 16464
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African
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Other
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Latino
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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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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South Asian
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Latino
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Other
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European (Non-Finnish)
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African
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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African
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Other
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European (Finnish)
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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SIO_000300: 3.219349e6

FS
type: SiteQuality
SIO_000300: 9.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

QD
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.008999999999999e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564553476437825e-5
allele num: 63916
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.751e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.292e0

DP
type: SiteQuality
SIO_000300: 3.220873e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 3.7e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564210855623338e-5
allele num: 63930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.76731544800982e-5
allele num: 11406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 1.986e0

MQ
type: SiteQuality
SIO_000300: 3.74e1

VQSLOD
type: SiteQuality
SIO_000300: -3.068e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

DP
type: SiteQuality
SIO_000300: 3.22181e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.628e0

QD
type: SiteQuality
SIO_000300: 2.55e0

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1745
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564210855623338e-5
allele num: 63930
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

MQ
type: SiteQuality
SIO_000300: 3.74e1

DP
type: SiteQuality
SIO_000300: 3.22181e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.628e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 1.986e0

VQSLOD
type: SiteQuality
SIO_000300: -3.068e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7862
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.628e0

QD
type: SiteQuality
SIO_000300: 2.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

MQ
type: SiteQuality
SIO_000300: 3.74e1

FS
type: SiteQuality
SIO_000300: 1.986e0

VQSLOD
type: SiteQuality
SIO_000300: -3.068e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 3.22181e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.090999010880316e-5
allele num: 64704
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.738e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 3.264e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 1.0156447e7

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

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

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.090712409210323e-5
allele num: 64710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 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: 11568
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.41e-1

QD
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.307e0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
type: SiteQuality
SIO_000300: 3.337e1

VQSLOD
type: SiteQuality
SIO_000300: -4.765e0

DP
type: SiteQuality
SIO_000300: 1.0157443e7

GenotypeQuality
all individuals: 219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9006
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.854886079079977e-4
allele num: 64694
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

FS
type: SiteQuality
SIO_000300: 1.412e0

MQ
type: SiteQuality
SIO_000300: 3.305e1

QD
type: SiteQuality
SIO_000300: 7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.905e0

DP
type: SiteQuality
SIO_000300: 1.0157887e7

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 6.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64708
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

MQ
type: SiteQuality
SIO_000300: 3.314e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.476e0

DP
type: SiteQuality
SIO_000300: 1.0158251e7

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 9.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545403968597391e-5
allele num: 64708
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.2e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.476e0

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 1.0158251e7

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9012
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.545403968597391e-5
allele num: 64708
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.275e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

FS
type: SiteQuality
SIO_000300: 1.519e0

MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

QD
type: SiteQuality
SIO_000300: 9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64702
num of homozygotes: 0

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

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

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

South Asian
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allele count: 15
allele frequency: 9.086503513448025e-4
allele num: 16508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.291e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545547278291243e-5
allele num: 64702
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e0

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 57340
bin: 9.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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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: 4.636211905792174e-5
allele num: 64708
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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MQ
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MQRankSum
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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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European (Non-Finnish)
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allele frequency: 1.54526068547764e-5
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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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InbreedingCoeff
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QD
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11570
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.544974198930878e-5
allele num: 64726
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Other
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allele frequency: 0.0e0
allele num: 896
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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InbreedingCoeff
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DP
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FS
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QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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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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South Asian
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allele frequency: 0.0e0
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Latino
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Other
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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
allele num: 6614
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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European (Non-Finnish)
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allele frequency: 1.544640098856966e-5
allele num: 64740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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FS
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9044
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
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ClippingRankSum
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SIO_000300: -7.01e-1

ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8648
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.543781647523774e-5
allele num: 64776
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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MQ
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DP
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QD
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Other
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African
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allele frequency: 1.103265666372463e-4
allele num: 9064
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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QD
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ClippingRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 896
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East Asian
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allele frequency: 0.0e0
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 11574
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.103265666372463e-4
allele num: 9064
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European (Non-Finnish)
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allele frequency: 1.543733983759918e-5
allele num: 64778
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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VQSLOD
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DP
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MQRankSum
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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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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South Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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QD
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InbreedingCoeff
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DP
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MQ
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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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South Asian
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East Asian
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Other
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Latino
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European (Finnish)
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DP
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VQSLOD
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FS
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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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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Latino
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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MQ
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 1.0169606e7

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 255
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64932
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: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 3.449e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 1.0169828e7

QD
type: SiteQuality
SIO_000300: 8.7e-1

FS
type: SiteQuality
SIO_000300: 2.102e0

VQSLOD
type: SiteQuality
SIO_000300: -3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 489
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539645881447267e-5
allele num: 64950
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 3.912e1

DP
type: SiteQuality
SIO_000300: 1.0170348e7

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 9.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.656e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -3.602e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.076733739462187e-5
allele num: 65004
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.556e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 2.049e0

QD
type: SiteQuality
SIO_000300: 2.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.484e0

MQ
type: SiteQuality
SIO_000300: 3.661e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.38e-1

DP
type: SiteQuality
SIO_000300: 1.01722e7

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535155050660117e-5
allele num: 65140
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: 900
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.0174867e7

FS
type: SiteQuality
SIO_000300: 1.663e0

VQSLOD
type: SiteQuality
SIO_000300: -3.663e0

QD
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 3.74e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.356e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65154
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.0175493e7

FS
type: SiteQuality
SIO_000300: 3.157e0

MQ
type: SiteQuality
SIO_000300: 3.683e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.84e0

VQSLOD
type: SiteQuality
SIO_000300: -3.684e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533460099368214e-5
allele num: 65212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.0177271e7

VQSLOD
type: SiteQuality
SIO_000300: -4.631e0

MQ
type: SiteQuality
SIO_000300: 3.695e1

QD
type: SiteQuality
SIO_000300: 7.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.709e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9522
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531534291052777e-5
allele num: 65294
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: -4.322e0

FS
type: SiteQuality
SIO_000300: 1.003e1

MQ
type: SiteQuality
SIO_000300: 3.887e1

QD
type: SiteQuality
SIO_000300: 3.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.0178306e7

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239341085271318e-4
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 1.823e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.979e0

DP
type: SiteQuality
SIO_000300: 1.018032e7

MQ
type: SiteQuality
SIO_000300: 3.736e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.248e0

VQSLOD
type: SiteQuality
SIO_000300: -3.244e0

QD
type: SiteQuality
SIO_000300: 6.0e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.461e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.241e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.0180596e7

VQSLOD
type: SiteQuality
SIO_000300: -3.337e0

QD
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 3.756e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531018433461939e-5
allele num: 65316
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.461e0

MQ
type: SiteQuality
SIO_000300: 3.756e1

DP
type: SiteQuality
SIO_000300: 1.0180596e7

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.0e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele count: 14
allele frequency: 1.618871415356152e-3
allele num: 8648
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16512
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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65380
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: 3.745e1

QD
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.116e0

VQSLOD
type: SiteQuality
SIO_000300: -3.079e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.0187616e7

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.223353824509894e-4
allele num: 65394
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 5.21593991237221e-4
allele num: 9586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 1.623e0

DP
type: SiteQuality
SIO_000300: 1.0193847e7

MQ
type: SiteQuality
SIO_000300: 3.776e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65394
num of homozygotes: 0

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

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

Latino
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allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.0193847e7

FS
type: SiteQuality
SIO_000300: 1.623e0

VQSLOD
type: SiteQuality
SIO_000300: -2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

MQ
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SIO_000300: 3.776e1

QD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65370
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 2.672e0

MQ
type: SiteQuality
SIO_000300: 3.713e1

ReadPosRankSum
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SIO_000300: 2.86e0

MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.0189091e7

VQSLOD
type: SiteQuality
SIO_000300: -4.523e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65380
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.131e0

MQ
type: SiteQuality
SIO_000300: 3.722e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.271e0

QD
type: SiteQuality
SIO_000300: 1.2e-1

DP
type: SiteQuality
SIO_000300: 1.0189529e7

MQRankSum
type: SiteQuality
SIO_000300: 2.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529005229197884e-5
allele num: 65402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

VQSLOD
type: SiteQuality
SIO_000300: -3.336e0

QD
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 1.0190409e7

MQ
type: SiteQuality
SIO_000300: 3.668e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529239050648397e-5
allele num: 65392
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 1.0190332e7

MQ
type: SiteQuality
SIO_000300: 3.694e1

QD
type: SiteQuality
SIO_000300: 3.38e0

FS
type: SiteQuality
SIO_000300: 5.019e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.544e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.474e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.881e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528911720637251e-5
allele num: 65406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.533e0

MQ
type: SiteQuality
SIO_000300: 3.616e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.254e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.870000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

DP
type: SiteQuality
SIO_000300: 1.019045e7

QD
type: SiteQuality
SIO_000300: 9.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.783021050196623e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65414
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 3.675e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

VQSLOD
type: SiteQuality
SIO_000300: -3.133e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.0194598e7

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529098749197223e-5
allele num: 65398
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.042318115488847e-4
allele num: 9594
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.161e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

MQ
type: SiteQuality
SIO_000300: 3.737e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.579e0

DP
type: SiteQuality
SIO_000300: 1.0191463e7

MQRankSum
type: SiteQuality
SIO_000300: -1.866e0

QD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 227
bin: 8.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.041232819658476e-4
allele num: 9604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65416
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.7869e1

MQRankSum
type: SiteQuality
SIO_000300: -4.759e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.94e0

MQ
type: SiteQuality
SIO_000300: 3.649e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.487e0

DP
type: SiteQuality
SIO_000300: 1.0191525e7

GenotypeQuality
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bin: 9.25e1
variant carriers: 64

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 758
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GenotypeQuality
all individuals: 216
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variant carriers: 73

Other
type: Population
allele count: 79
allele frequency: 9.587378640776699e-2
allele num: 824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4902
allele frequency: 8.481555817011557e-2
allele num: 57796
num of homozygotes: 0

South Asian
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allele count: 1848
allele frequency: 1.218836565096953e-1
allele num: 15162
num of homozygotes: 0

African
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allele count: 163
allele frequency: 1.729259495013792e-2
allele num: 9426
num of homozygotes: 0

East Asian
type: Population
allele count: 773
allele frequency: 1.016570226196739e-1
allele num: 7604
num of homozygotes: 0

Latino
type: Population
allele count: 385
allele frequency: 3.679281345565749e-2
allele num: 10464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 573
allele frequency: 9.808284833960973e-2
allele num: 5842
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.5993809e7

ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.807e0

MQ
type: SiteQuality
SIO_000300: 3.692e1

QD
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 7.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.98e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 312
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57796
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European (Finnish)
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African
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East Asian
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allele frequency: 1.315097317201473e-4
allele num: 7604
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: 824
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South Asian
type: Population
allele count: 0
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allele num: 15162
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.49e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.98e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.5993809e7

MQ
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
all individuals: 9
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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African
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East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043213633597079e-5
allele num: 65720
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

QD
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DP
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SIO_000300: 1.1837834e7

VQSLOD
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SIO_000300: -3.661e0

GenotypeQuality
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GenotypeQuality
all individuals: 263
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GenotypeQuality
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GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520681265206813e-5
allele num: 65760
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.169e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.183839e7

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

MQ
type: SiteQuality
SIO_000300: 3.589e1

QD
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.958e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.124e0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65814
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.0e-1

MQ
type: SiteQuality
SIO_000300: 3.634e1

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.281e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 1.792e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.184088e7

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e0

MQ
type: SiteQuality
SIO_000300: 3.716e1

VQSLOD
type: SiteQuality
SIO_000300: -7.371e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.868e0

FS
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

DP
type: SiteQuality
SIO_000300: 1.1839253e7

QD
type: SiteQuality
SIO_000300: 4.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.188e0

GenotypeQuality
all individuals: 968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51846452866861e-5
allele num: 65856
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.711e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.917e0

DP
type: SiteQuality
SIO_000300: 1.1840186e7

QD
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 2.613e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.455e0

GenotypeQuality
all individuals: 359
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51846452866861e-5
allele num: 65856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.455e0

FS
type: SiteQuality
SIO_000300: 2.613e0

QD
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.917e0

MQ
type: SiteQuality
SIO_000300: 3.711e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

DP
type: SiteQuality
SIO_000300: 1.1840186e7