11-17351718-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351718
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351718
    reference: chr 11
allele count: 2
allele frequency: 2.079996672005325e-5
allele num: 96154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*153A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.320A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-731A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.957A>G
  hgvsp: ENST00000458064.2:c.957A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.379A>G
  hgvsp: ENST00000527580.1:c.379A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1047A>G
  hgvsp: ENST00000529010.1:c.1047A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1047A>G
  hgvsp: ENST00000323688.6:c.1047A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu349Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

11-17351721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351721
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351721
    reference: chr 11
allele count: 104
allele frequency: 1.060250790090733e-3
allele num: 98090
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1050T>C
  hgvsp: ENST00000529010.1:c.1050T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.960T>C
  hgvsp: ENST00000458064.2:c.960T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*156T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-728T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1050T>C
  hgvsp: ENST00000323688.6:c.1050T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.382T>C
  hgvsp: ENST00000527580.1:c.382T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.323T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28744
  bin: 2.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7002
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31969
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11613
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr350Tyr
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

11-17351726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351726
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351726
    reference: chr 11
allele count: 3
allele frequency: 2.965657684019059e-5
allele num: 101158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*161A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.387A>G
  hgvsp: ENSP00000435787.1:p.Asn130Ser
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1055A>G
  hgvsp: ENSP00000436455.1:p.Asn352Ser
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-723A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.965A>G
  hgvsp: ENSP00000408702.2:p.Asn322Ser
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.328A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1055A>G
  hgvsp: ENSP00000320168.6:p.Asn352Ser
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31356
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34858
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn352Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

11-17351729-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351729
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351729
    reference: chr 11
allele count: 1
allele frequency: 9.758192002185835e-6
allele num: 102478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.390T>A
  hgvsp: ENSP00000435787.1:p.Ile131Asn
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-720T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1058T>A
  hgvsp: ENSP00000320168.6:p.Ile353Asn
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1058T>A
  hgvsp: ENSP00000436455.1:p.Ile353Asn
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.968T>A
  hgvsp: ENSP00000408702.2:p.Ile323Asn
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*164T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.331T>A
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile353Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

11-17351729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351729
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351729
    reference: chr 11
allele count: 1
allele frequency: 9.758192002185835e-6
allele num: 102478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.390T>C
  hgvsp: ENSP00000435787.1:p.Ile131Thr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.331T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1058T>C
  hgvsp: ENSP00000320168.6:p.Ile353Thr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.968T>C
  hgvsp: ENSP00000408702.2:p.Ile323Thr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-720T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1058T>C
  hgvsp: ENSP00000436455.1:p.Ile353Thr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*164T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32507
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile353Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-17351735-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351735
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351735
    reference: chr 11
allele count: 1
allele frequency: 9.465394517643496e-6
allele num: 105648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.337C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*170C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.396C>G
  hgvsp: ENSP00000435787.1:p.Ala133Gly
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1064C>G
  hgvsp: ENSP00000436455.1:p.Ala355Gly
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.974C>G
  hgvsp: ENSP00000408702.2:p.Ala325Gly
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1064C>G
  hgvsp: ENSP00000320168.6:p.Ala355Gly
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-714C>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala355Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-17351744-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351744
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351744
    reference: chr 11
allele count: 1
allele frequency: 9.074904259760059e-6
allele num: 110194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1073A>C
  hgvsp: ENSP00000320168.6:p.Glu358Ala
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.346A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.405A>C
  hgvsp: ENSP00000435787.1:p.Glu136Ala
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.983A>C
  hgvsp: ENSP00000408702.2:p.Glu328Ala
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-705A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*179A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1073A>C
  hgvsp: ENSP00000436455.1:p.Glu358Ala
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu358Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-17351747-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351747
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351747
    reference: chr 11
allele count: 7
allele frequency: 6.300289813331413e-5
allele num: 111106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.986A>C
  hgvsp: ENSP00000408702.2:p.Asn329Thr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.408A>C
  hgvsp: ENSP00000435787.1:p.Asn137Thr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1076A>C
  hgvsp: ENSP00000436455.1:p.Asn359Thr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1076A>C
  hgvsp: ENSP00000320168.6:p.Asn359Thr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*182A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.349A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-702A>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37821
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn359Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-17351748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351748
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351748
    reference: chr 11
allele count: 241
allele frequency: 2.163996839307521e-3
allele num: 111368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1077T>C
  hgvsp: ENST00000529010.1:c.1077T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.350T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.409T>C
  hgvsp: ENST00000527580.1:c.409T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*183T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1077T>C
  hgvsp: ENST00000323688.6:c.1077T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-701T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.987T>C
  hgvsp: ENST00000458064.2:c.987T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4553
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37846
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 235
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Asn359Asn
num of homozygotes: 4
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

11-17351754-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351754
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351751
    reference: chr 11
allele count: 2
allele frequency: 1.766347546543258e-5
allele num: 113228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1090_1092delAAG
  hgvsp: ENSP00000436455.1:p.Lys364del
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1000_1002delAAG
  hgvsp: ENSP00000408702.2:p.Lys334del
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-688_131-686delAAG
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1090_1092delAAG
  hgvsp: ENSP00000320168.6:p.Lys364del
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*196_*198delAAG
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.422_424delAAG
  hgvsp: ENSP00000435787.1:p.Lys142del
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.363_365delAAG
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys364del
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: TAAG
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-17351759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351759
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351759
    reference: chr 11
allele count: 1
allele frequency: 8.72280665026779e-6
allele num: 114642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.998A>G
  hgvsp: ENSP00000408702.2:p.Lys333Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-690A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.361A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1088A>G
  hgvsp: ENSP00000436455.1:p.Lys363Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.420A>G
  hgvsp: ENSP00000435787.1:p.Lys141Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1088A>G
  hgvsp: ENSP00000320168.6:p.Lys363Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*194A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys363Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-17351762-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351762
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351762
    reference: chr 11
allele count: 1
allele frequency: 8.674230595746157e-6
allele num: 115284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.364A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.423A>G
  hgvsp: ENSP00000435787.1:p.Lys142Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*197A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1001A>G
  hgvsp: ENSP00000408702.2:p.Lys334Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-687A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1091A>G
  hgvsp: ENSP00000320168.6:p.Lys364Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1091A>G
  hgvsp: ENSP00000436455.1:p.Lys364Arg
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10791
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys364Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

11-17351770-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351770
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351770
    reference: chr 11
allele count: 1
allele frequency: 8.574123295892996e-6
allele num: 116630
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1099G>A
  hgvsp: ENSP00000436455.1:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1009G>A
  hgvsp: ENSP00000408702.2:p.Glu337Lys
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1099G>A
  hgvsp: ENSP00000320168.6:p.Glu367Lys
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.431G>A
  hgvsp: ENSP00000435787.1:p.Glu145Lys
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.372G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-679G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*205G>A
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu367Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/11-17351779-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351779
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351779
    reference: chr 11
allele count: 1
allele frequency: 8.492713252029759e-6
allele num: 117748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.440A>C
  hgvsp: ENSP00000435787.1:p.Lys148Gln
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*214A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1108A>C
  hgvsp: ENSP00000436455.1:p.Lys370Gln
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1018A>C
  hgvsp: ENSP00000408702.2:p.Lys340Gln
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1108A>C
  hgvsp: ENSP00000320168.6:p.Lys370Gln
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-670A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.381A>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys370Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

11-17351790-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351790
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351790
    reference: chr 11
allele count: 74
allele frequency: 6.23967081520456e-4
allele num: 118596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.451A>G
  hgvsp: ENST00000527580.1:c.451A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-659A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*225A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1029A>G
  hgvsp: ENST00000458064.2:c.1029A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1119A>G
  hgvsp: ENST00000323688.6:c.1119A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1119A>G
  hgvsp: ENST00000529010.1:c.1119A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.392A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 40463
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12117
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 9.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu373Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-17351793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351793
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351793
    reference: chr 11
allele count: 1
allele frequency: 8.424741781664392e-6
allele num: 118698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*228G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1122G>A
  hgvsp: ENST00000323688.6:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1032G>A
  hgvsp: ENST00000458064.2:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.395G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-656G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1122G>A
  hgvsp: ENST00000529010.1:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.454G>A
  hgvsp: ENST00000527580.1:c.454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu374Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/11-17351796-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351796
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351795
    reference: chr 11
allele count: 1
allele frequency: 8.414250374434141e-6
allele num: 118846
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1126delC
  hgvsp: ENSP00000436455.1:p.Gln376AsnfsTer39
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.399delC
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*232delC
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.458delC
  hgvsp: ENSP00000435787.1:p.Gln154AsnfsTer39
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1036delC
  hgvsp: ENSP00000408702.2:p.Gln346AsnfsTer39
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1126delC
  hgvsp: ENSP00000320168.6:p.Gln376AsnfsTer39
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-652delC
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12324
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln376AsnfsTer39
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: AC
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-17351797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351797
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351797
    reference: chr 11
allele count: 2
allele frequency: 1.6824253844342e-5
allele num: 118876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-652C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1126C>T
  hgvsp: ENSP00000436455.1:p.Gln376Ter
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*232C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.458C>T
  hgvsp: ENSP00000435787.1:p.Gln154Ter
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.399C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1126C>T
  hgvsp: ENSP00000320168.6:p.Gln376Ter
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1036C>T
  hgvsp: ENSP00000408702.2:p.Gln346Ter
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50081
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln376Ter
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

11-17351798-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351798
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351798
    reference: chr 11
allele count: 5
allele frequency: 4.2035881828729e-5
allele num: 118946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1037A>G
  hgvsp: ENSP00000408702.2:p.Gln346Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1127A>G
  hgvsp: ENSP00000320168.6:p.Gln376Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-651A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.400A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1127A>G
  hgvsp: ENSP00000436455.1:p.Gln376Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.459A>G
  hgvsp: ENSP00000435787.1:p.Gln154Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*233A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln376Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-17351799-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351799
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351799
    reference: chr 11
allele count: 2
allele frequency: 1.680983038881138e-5
allele num: 118978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1128A>G
  hgvsp: ENST00000323688.6:c.1128A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*234A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1038A>G
  hgvsp: ENST00000458064.2:c.1038A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.460A>G
  hgvsp: ENST00000527580.1:c.460A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-650A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1128A>G
  hgvsp: ENST00000529010.1:c.1128A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.401A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40457
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln376Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-17351800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351800
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351800
    reference: chr 11
allele count: 1
allele frequency: 8.403785064793184e-6
allele num: 118994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-649C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*235C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1129C>T
  hgvsp: ENSP00000436455.1:p.Arg377Cys
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.402C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1039C>T
  hgvsp: ENSP00000408702.2:p.Arg347Cys
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.461C>T
  hgvsp: ENSP00000435787.1:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1129C>T
  hgvsp: ENSP00000320168.6:p.Arg377Cys
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg377Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

11-17351801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351801
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351801
    reference: chr 11
allele count: 19
allele frequency: 1.596102150537635e-4
allele num: 119040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*236G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1040G>A
  hgvsp: ENSP00000408702.2:p.Arg347His
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1130G>A
  hgvsp: ENSP00000436455.1:p.Arg377His
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1130G>A
  hgvsp: ENSP00000320168.6:p.Arg377His
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.403G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-648G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.462G>A
  hgvsp: ENSP00000435787.1:p.Arg155His
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12433
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 40394
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 19
hgvs: p.Arg377His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

11-17351807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351807
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351807
    reference: chr 11
allele count: 3
allele frequency: 2.518511056263537e-5
allele num: 119118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1136A>G
  hgvsp: ENSP00000320168.6:p.His379Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1046A>G
  hgvsp: ENSP00000408702.2:p.His349Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.409A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.468A>G
  hgvsp: ENSP00000435787.1:p.His157Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1136A>G
  hgvsp: ENSP00000436455.1:p.His379Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-642A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*242A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His379Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

11-17351811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351811
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351811
    reference: chr 11
allele count: 3
allele frequency: 2.518003726645515e-5
allele num: 119142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1140T>C
  hgvsp: ENST00000323688.6:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1050T>C
  hgvsp: ENST00000458064.2:c.1050T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.413T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.472T>C
  hgvsp: ENST00000527580.1:c.472T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-638T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1140T>C
  hgvsp: ENST00000529010.1:c.1140T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*246T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp380Asp
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-17351814-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351814
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351814
    reference: chr 11
allele count: 1
allele frequency: 8.390387971539804e-6
allele num: 119184
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1143A>G
  hgvsp: ENST00000529010.1:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-635A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.475A>G
  hgvsp: ENST00000527580.1:c.475A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.416A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*249A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1143A>G
  hgvsp: ENST00000323688.6:c.1143A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1053A>G
  hgvsp: ENST00000458064.2:c.1053A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln381Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

11-17351815-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351815
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351815
    reference: chr 11
allele count: 1
allele frequency: 8.391232839928842e-6
allele num: 119172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1144C>G
  hgvsp: ENSP00000320168.6:p.Leu382Val
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.476C>G
  hgvsp: ENSP00000435787.1:p.Leu160Val
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1054C>G
  hgvsp: ENSP00000408702.2:p.Leu352Val
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1144C>G
  hgvsp: ENSP00000436455.1:p.Leu382Val
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*250C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-634C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.417C>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu382Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-17351829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351829
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351829
    reference: chr 11
allele count: 1
allele frequency: 8.393345755485052e-6
allele num: 119142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.431G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*264G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-620G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1068G>A
  hgvsp: ENST00000458064.2:c.1068G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1158G>A
  hgvsp: ENST00000323688.6:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1158G>A
  hgvsp: ENST00000529010.1:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.490G>A
  hgvsp: ENST00000527580.1:c.490G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39636
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys386Lys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-17351842-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351842
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351841
    reference: chr 11
allele count: 1
allele frequency: 8.412551526878102e-6
allele num: 118870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1172delA
  hgvsp: ENSP00000320168.6:p.Gln391ArgfsTer24
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1082delA
  hgvsp: ENSP00000408702.2:p.Gln361ArgfsTer24
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*278delA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.445delA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1172delA
  hgvsp: ENSP00000436455.1:p.Gln391ArgfsTer24
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.504delA
  hgvsp: ENSP00000435787.1:p.Gln169ArgfsTer24
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-606delA
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln391ArgfsTer24
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: CA
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

11-17351868-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351868
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351868
    reference: chr 11
allele count: 1
allele frequency: 9.206238146968386e-6
allele num: 108622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1173+24G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.446+24G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*279+24G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-581G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1083+24G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1173+24G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.505+24G>A
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

11-17351873-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351873
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351874
    reference: chr 11
allele count: 30351
allele frequency: 2.610614140719078e-1
allele num: 116260
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.446+34dupA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-571dupA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.505+34dupA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1173+34dupA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1173+34dupA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1083+34dupA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*279+34dupA
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 3.25e1
  variant carriers: 3866
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 1.25e1
  variant carriers: 1688
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 418
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.75e1
  variant carriers: 1095
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 1.75e1
  variant carriers: 3284
genotype depth: GenotypeDepth
  all individuals: 20003
  bin: 2.25e1
  variant carriers: 4327
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 7.5e0
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 3.75e1
  variant carriers: 2964
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 670
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 4.25e1
  variant carriers: 1865
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 462
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 164
genotype depth: GenotypeDepth
  all individuals: 10250
  bin: 2.75e1
  variant carriers: 4389
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 19167
  bin: 6.25e1
  variant carriers: 293
genotype quality: GenotypeQuality
  all individuals: 23251
  bin: 9.75e1
  variant carriers: 22424
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 350
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.25e1
  variant carriers: 331
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 377
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.25e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 288
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 311
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.5e0
  variant carriers: 24
num of homozygotes: 4525
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

11-17351881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351881
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351881
    reference: chr 11
allele count: 10
allele frequency: 8.7631666579035e-5
allele num: 114114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1173+37T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.446+37T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.505+37T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1173+37T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1083+37T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*279+37T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-568T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15103
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10618
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-17351885-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351885
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351885
    reference: chr 11
allele count: 1
allele frequency: 8.789354334030623e-6
allele num: 113774
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1173+41A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.505+41A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.446+41A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-564A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*279+41A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1173+41A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1083+41A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10196
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

11-17351889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17351889
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17351889
    reference: chr 11
allele count: 1
allele frequency: 8.865405414989627e-6
allele num: 112798
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1173+45G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-560G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.446+45G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1173+45G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1083+45G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*279+45G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.505+45G>A
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-17352398-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352398
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352398
    reference: chr 11
allele count: 7
allele frequency: 6.556640002997321e-5
allele num: 106762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-51A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

11-17352403-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352403
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352403
    reference: chr 11
allele count: 1
allele frequency: 9.359089547768794e-6
allele num: 106848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-46A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-46A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-46A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-46A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-46A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-46A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-46A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3030
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5823
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16760
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-17352404-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352404
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352404
    reference: chr 11
allele count: 1
allele frequency: 9.353312007781956e-6
allele num: 106914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-45T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-45T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-45T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-45T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-45T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-45T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-45T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4953
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

11-17352410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352410
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352410
    reference: chr 11
allele count: 1
allele frequency: 9.322097098963383e-6
allele num: 107272
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-39A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-39A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-39A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-39A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-39A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-39A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-39A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

11-17352424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352424
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352424
    reference: chr 11
allele count: 188
allele frequency: 1.722937057810037e-3
allele num: 109116
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-25T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-25T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-25T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-25T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-25T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-25T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-25T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27454
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5500
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 3
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/11-17352432-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352432
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352432
    reference: chr 11
allele count: 1
allele frequency: 9.00835975785529e-6
allele num: 111008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-17C>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-17C>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-17C>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-17C>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-17C>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-17C>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-17C>A
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30516
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS

11-17352433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352433
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352433
    reference: chr 11
allele count: 1
allele frequency: 8.975210468685491e-6
allele num: 111418
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-16A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-16A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-16A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-16A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-16A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-16A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-16A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10361
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

11-17352441-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352441
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352441
    reference: chr 11
allele count: 2
allele frequency: 1.763264154603001e-5
allele num: 113426
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-8T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-8T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-8T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-8T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-8T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-8T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-8T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1174-8T>C
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-17352446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352446
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352446
    reference: chr 11
allele count: 1
allele frequency: 8.748447150630764e-6
allele num: 114306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*280-3C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.131-3C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1174-3C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1174-3C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.506-3C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.447-3C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1084-3C>T
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11624
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1174-3C>T
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

11-17352455-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352455
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352455
    reference: chr 11
allele count: 1
allele frequency: 8.713078330574192e-6
allele num: 114770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.137C>G
  hgvsp: ENSP00000432741.1:p.Gln47Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.512C>G
  hgvsp: ENSP00000435787.1:p.Gln172Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1090C>G
  hgvsp: ENSP00000408702.2:p.Gln364Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.453C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*286C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1180C>G
  hgvsp: ENSP00000320168.6:p.Gln394Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1180C>G
  hgvsp: ENSP00000436455.1:p.Gln394Glu
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln394Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-17352465-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352465
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352465
    reference: chr 11
allele count: 1
allele frequency: 8.990703612464711e-6
allele num: 111226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1190A>G
  hgvsp: ENSP00000320168.6:p.Glu397Gly
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.463A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1190A>G
  hgvsp: ENSP00000436455.1:p.Glu397Gly
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.522A>G
  hgvsp: ENSP00000435787.1:p.Glu175Gly
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*296A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1100A>G
  hgvsp: ENSP00000408702.2:p.Glu367Gly
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.147A>G
  hgvsp: ENSP00000432741.1:p.Glu50Gly
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu397Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

11-17352467-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352467
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352467
    reference: chr 11
allele count: 1
allele frequency: 9.097028910357877e-6
allele num: 109926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.465C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.524C>G
  hgvsp: ENSP00000435787.1:p.Gln176Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1192C>G
  hgvsp: ENSP00000436455.1:p.Gln398Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1192C>G
  hgvsp: ENSP00000320168.6:p.Gln398Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1102C>G
  hgvsp: ENSP00000408702.2:p.Gln368Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*298C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.149C>G
  hgvsp: ENSP00000432741.1:p.Gln51Glu
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln398Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

11-17352470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352470
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352470
    reference: chr 11
allele count: 2
allele frequency: 1.864106626899059e-5
allele num: 107290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.468A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1105A>G
  hgvsp: ENSP00000408702.2:p.Lys369Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.152A>G
  hgvsp: ENSP00000432741.1:p.Lys52Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1195A>G
  hgvsp: ENSP00000320168.6:p.Lys399Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*301A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.527A>G
  hgvsp: ENSP00000435787.1:p.Lys177Glu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1195A>G
  hgvsp: ENSP00000436455.1:p.Lys399Glu
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys399Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

11-17352477-TACA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352477
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352474
    reference: chr 11
allele count: 30633
allele frequency: 2.573725865806322e-1
allele num: 119022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.164_166delCAA
  hgvsp: ENSP00000432741.1:p.Gln56del
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.539_541delCAA
  hgvsp: ENSP00000435787.1:p.Gln181del
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1207_1209delCAA
  hgvsp: ENSP00000436455.1:p.Gln403del
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.480_482delCAA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*313_*315delCAA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1117_1119delCAA
  hgvsp: ENSP00000408702.2:p.Gln373del
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1207_1209delCAA
  hgvsp: ENSP00000320168.6:p.Gln403del
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 3.25e1
  variant carriers: 2424
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 1.75e1
  variant carriers: 736
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 4.75e1
  variant carriers: 2856
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 6.75e1
  variant carriers: 1213
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 5.75e1
  variant carriers: 1917
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.25e1
  variant carriers: 920
genotype depth: GenotypeDepth
  all individuals: 10851
  bin: 2.75e1
  variant carriers: 1813
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 4.25e1
  variant carriers: 2956
genotype depth: GenotypeDepth
  all individuals: 20763
  bin: 2.25e1
  variant carriers: 1238
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 8.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 5.25e1
  variant carriers: 2456
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 6.25e1
  variant carriers: 1512
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.75e1
  variant carriers: 2798
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 1267
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 638
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 28
hgvs: p.Gln403del
num of homozygotes: 4512
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: TACA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

11-17352500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352500
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352500
    reference: chr 11
allele count: 1
allele frequency: 8.451085119329322e-6
allele num: 118328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1225G>A
  hgvsp: ENSP00000436455.1:p.Gly409Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.557G>A
  hgvsp: ENSP00000435787.1:p.Gly187Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1135G>A
  hgvsp: ENSP00000408702.2:p.Gly379Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.182G>A
  hgvsp: ENSP00000432741.1:p.Gly62Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1225G>A
  hgvsp: ENSP00000320168.6:p.Gly409Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*331G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.498G>A
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly409Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-17352505-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352505
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352505
    reference: chr 11
allele count: 1
allele frequency: 8.468404383246109e-6
allele num: 118086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.503A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.562A>G
  hgvsp: ENST00000527580.1:c.562A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1230A>G
  hgvsp: ENST00000323688.6:c.1230A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.187A>G
  hgvsp: ENST00000527735.1:c.187A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*336A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1230A>G
  hgvsp: ENST00000529010.1:c.1230A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1140A>G
  hgvsp: ENST00000458064.2:c.1140A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro410Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

11-17352512-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352512
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352512
    reference: chr 11
allele count: 3
allele frequency: 2.551714752313555e-5
allele num: 117568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.194G>T
  hgvsp: ENSP00000432741.1:p.Glu66Ter
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.510G>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1147G>T
  hgvsp: ENSP00000408702.2:p.Glu383Ter
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1237G>T
  hgvsp: ENSP00000320168.6:p.Glu413Ter
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.569G>T
  hgvsp: ENSP00000435787.1:p.Glu191Ter
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1237G>T
  hgvsp: ENSP00000436455.1:p.Glu413Ter
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*343G>T
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu413Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

11-17352521-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352521
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352521
    reference: chr 11
allele count: 1
allele frequency: 8.577653497109331e-6
allele num: 116582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1246T>A
  hgvsp: ENSP00000320168.6:p.Phe416Ile
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1156T>A
  hgvsp: ENSP00000408702.2:p.Phe386Ile
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.203T>A
  hgvsp: ENSP00000432741.1:p.Phe69Ile
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.578T>A
  hgvsp: ENSP00000435787.1:p.Phe194Ile
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*352T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.519T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1246T>A
  hgvsp: ENSP00000436455.1:p.Phe416Ile
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe416Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

11-17352530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352530
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352530
    reference: chr 11
allele count: 3
allele frequency: 2.623753716984432e-5
allele num: 114340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.528C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.212C>T
  hgvsp: ENSP00000432741.1:p.His72Tyr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.587C>T
  hgvsp: ENSP00000435787.1:p.His197Tyr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.1255C>T
  hgvsp: ENSP00000320168.6:p.Arg419Cys
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*361C>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1165C>T
  hgvsp: ENSP00000408702.2:p.His389Tyr
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1255C>T
  hgvsp: ENSP00000436455.1:p.His419Tyr
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7908
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His419Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

11-17352548-ATTAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352548
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352544
    reference: chr 11
allele count: 2
allele frequency: 1.962169374460403e-5
allele num: 101928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*18_*21delTTTA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.528+26_528+29delTTTA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.587+26_587+29delTTTA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.212+26_212+29delTTTA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1255+26_1255+29delTTTA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1165+26_1165+29delTTTA
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*361+26_*361+29delTTTA
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20761
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: ATTAT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

11-17352553-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352553
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352553
    reference: chr 11
allele count: 10
allele frequency: 1.047208143090521e-4
allele num: 95492
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.528+23T>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*15T>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1255+23T>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.587+23T>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1165+23T>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*361+23T>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.212+23T>G
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18751
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-17352572-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352572
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352573
    reference: chr 11
allele count: 1
allele frequency: 1.414547203440179e-5
allele num: 70694
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.587+46dupT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.528+46dupT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1255+46dupT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*361+46dupT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1165+46dupT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.212+46dupT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*38dupT
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

11-17352581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352581
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352581
    reference: chr 11
allele count: 1
allele frequency: 1.572277601333291e-5
allele num: 63602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1165+51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.587+51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.528+51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.212+51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1255+51A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*43A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*361+51A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16885
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16388
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10490
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6046
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

11-17352582-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352582
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352582
    reference: chr 11
allele count: 1
allele frequency: 1.575497857322914e-5
allele num: 63472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*44T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*361+52T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1255+52T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.212+52T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1165+52T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.587+52T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.528+52T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

11-17352586-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352586
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352586
    reference: chr 11
allele count: 3
allele frequency: 4.93485984998026e-5
allele num: 60792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.528+56A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*48A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1165+56A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*361+56A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.212+56A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1255+56A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.587+56A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17148
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16112
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12616
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

11-17352587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352587
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352587
    reference: chr 11
allele count: 1
allele frequency: 1.71573673735502e-5
allele num: 58284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1165+57A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*361+57A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.528+57A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1255+57A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*49A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.587+57A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.212+57A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17311
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8145
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-17352916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352916
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352916
    reference: chr 11
allele count: 46
allele frequency: 4.74490953726817e-4
allele num: 96946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362-43G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256-43G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529-43G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*378G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588-43G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213-43G>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166-43G>A
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12032
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 16530
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-17352916-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352916
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352916
    reference: chr 11
allele count: 14
allele frequency: 1.444102902646834e-4
allele num: 96946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588-43G>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362-43G>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*378G>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166-43G>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529-43G>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213-43G>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256-43G>C
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12032
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
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: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

11-17352923-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352923
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352923
    reference: chr 11
allele count: 1
allele frequency: 1.021241830065359e-5
allele num: 97920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213-36C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362-36C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*385C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256-36C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529-36C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588-36C>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166-36C>G
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16993
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9861
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

11-17352927-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352927
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352927
    reference: chr 11
allele count: 1
allele frequency: 1.012494178158476e-5
allele num: 98766
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256-32T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529-32T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588-32T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*389T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166-32T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213-32T>A
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362-32T>A
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3500
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

11-17352933-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352933
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352933
    reference: chr 11
allele count: 2
allele frequency: 1.983615337313788e-5
allele num: 100826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166-26A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213-26A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256-26A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*395A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529-26A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588-26A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362-26A>G
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-17352937-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352937
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352937
    reference: chr 11
allele count: 1
allele frequency: 9.754194303550527e-6
allele num: 102520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213-22A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362-22A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000320168
  ensembl transcript: ENST00000323688
  gene symbol: NUCB2
  hgvsc: ENST00000323688.6:c.*399A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166-22A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256-22A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529-22A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588-22A>C
  variant of: http://identifiers.org/hgnc/8044
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

11-17352939-TTTTTTCTTTTTTCCAACAGACA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352939
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352917
    reference: chr 11
allele count: 1
allele frequency: 9.691237183338825e-6
allele num: 103186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1256-16_1261delTTCTTTTTTCCAACAGACATTT
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: TTTTTTCTTTTTTCCAACAGACA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-17352945-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352945
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352944
    reference: chr 11
allele count: 2
allele frequency: 1.89021624073794e-5
allele num: 105808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588-8delT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213-8delT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529-8delT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362-8delT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256-8delT
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166-8delT
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: CT
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

11-17352948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352948
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352948
    reference: chr 11
allele count: 1
allele frequency: 9.297482241808919e-6
allele num: 107556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166-11T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588-11T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529-11T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256-11T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362-11T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213-11T>C
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

11-17352959-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352959
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352959
    reference: chr 11
allele count: 5
allele frequency: 4.444681494124131e-5
allele num: 112494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*362A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.529A>G
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1166A>G
  hgvsp: ENSP00000408702.2:p.His389Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.588A>G
  hgvsp: ENSP00000435787.1:p.His197Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1256A>G
  hgvsp: ENSP00000436455.1:p.His419Arg
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.213A>G
  hgvsp: ENSP00000432741.1:p.His72Arg
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His419Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/11-17352961-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352961
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352961
    reference: chr 11
allele count: 1
allele frequency: 8.853474988933156e-6
allele num: 112950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.531A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.215A>C
  hgvsp: ENSP00000432741.1:p.Ile73Leu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1168A>C
  hgvsp: ENSP00000408702.2:p.Ile390Leu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*364A>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1258A>C
  hgvsp: ENSP00000436455.1:p.Ile420Leu
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.590A>C
  hgvsp: ENSP00000435787.1:p.Ile198Leu
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile420Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-17352963-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352963
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352963
    reference: chr 11
allele count: 6
allele frequency: 5.296329643557015e-5
allele num: 113286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1260T>C
  hgvsp: ENST00000529010.1:c.1260T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.533T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*366T>C
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.217T>C
  hgvsp: ENST00000527735.1:c.217T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1170T>C
  hgvsp: ENST00000458064.2:c.1170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.592T>C
  hgvsp: ENST00000527580.1:c.592T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile420Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

11-17352965-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 17352965
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 17352965
    reference: chr 11
allele count: 1
allele frequency: 8.799408679736721e-6
allele num: 113644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070081
  ensembl transcript: ENST00000531242
  gene symbol: NUCB2
  hgvsc: ENST00000531242.1:n.535A>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000436455
  ensembl transcript: ENST00000529010
  gene symbol: NUCB2
  hgvsc: ENST00000529010.1:c.1262A>T
  hgvsp: ENSP00000436455.1:p.Ter421LeuextTer21
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000432741
  ensembl transcript: ENST00000527735
  gene symbol: NUCB2
  hgvsc: ENST00000527735.1:c.219A>T
  hgvsp: ENSP00000432741.1:p.Ter74LeuextTer21
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000433542
  ensembl transcript: ENST00000533773
  gene symbol: NUCB2
  hgvsc: ENST00000533773.1:c.*368A>T
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000435787
  ensembl transcript: ENST00000527580
  gene symbol: NUCB2
  hgvsc: ENST00000527580.1:c.594A>T
  hgvsp: ENSP00000435787.1:p.Ter199LeuextTer21
  variant of: http://identifiers.org/hgnc/8044
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000070081
  ensembl protein: ENSP00000408702
  ensembl transcript: ENST00000458064
  gene symbol: NUCB2
  hgvsc: ENST00000458064.2:c.1172A>T
  hgvsp: ENSP00000408702.2:p.Ter391LeuextTer?
  variant of: http://identifiers.org/hgnc/8044
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ter421LeuextTer21
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 274
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.445086705202312e-4
allele num: 13840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52078
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.526e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.16363e6

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: -1.31e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 9.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 712
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 9.75e1
variant carriers: 102

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.133685261806249e-5
allele num: 14018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.292824822236587e-3
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.63740228502706e-5
allele num: 53216
num of homozygotes: 0

African
type: Population
allele count: 88
allele frequency: 1.123021949974477e-2
allele num: 7836
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

DP
type: SiteQuality
SIO_000300: 1.191394e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1856
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3035
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14324
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.692762186115214e-4
allele num: 8124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54966
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.114e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

FS
type: SiteQuality
SIO_000300: 4.872e0

DP
type: SiteQuality
SIO_000300: 1.230981e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeQuality
all individuals: 9448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.91754288876591e-5
allele num: 14456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

DP
type: SiteQuality
SIO_000300: 1.24961e6

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9448
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.794172527630257e-5
allele num: 55736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.409e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

DP
type: SiteQuality
SIO_000300: 1.24961e6

GenotypeQuality
all individuals: 1228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 771
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38920
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3281
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7418
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.29502e6

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.721e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.2366e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

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

GenotypeQuality
all individuals: 42828
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3593
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.543646119617851e-5
allele num: 15282
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.351822e6

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.555e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
all individuals: 284
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 43625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.932425766992207e-5
allele num: 60822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.949824515793578e-4
allele num: 15386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.341e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.362605e6

FS
type: SiteQuality
SIO_000300: 3.758e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 581
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43626
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60978
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.203258052573121e-3
allele num: 10804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.278118609406953e-4
allele num: 7824
num of homozygotes: 0

African
type: Population
allele count: 227
allele frequency: 2.510506525105065e-2
allele num: 9042
num of homozygotes: 4

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 1.370523e6

QD
type: SiteQuality
SIO_000300: 1.451e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
all individuals: 413
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45398
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.611136173229361e-5
allele num: 62068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.087902523933855e-4
allele num: 9192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.657e1

MQ
type: SiteQuality
SIO_000300: 5.84e1

MQRankSum
type: SiteQuality
SIO_000300: -1.224e0

FS
type: SiteQuality
SIO_000300: 4.213e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.393039e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
all individuals: 578
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.525320317266626e-4
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.410309e6

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.175e0

QD
type: SiteQuality
SIO_000300: 1.313e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579978512292233e-5
allele num: 63292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.613e0

QD
type: SiteQuality
SIO_000300: 1.68e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 1.418581e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.596e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 347
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variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558895055184885e-5
allele num: 64148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.071e1

FS
type: SiteQuality
SIO_000300: 5.076e0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.546e0

DP
type: SiteQuality
SIO_000300: 1.43728e6

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
all individuals: 4240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 918
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 335
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GenotypeQuality
all individuals: 48962
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64832
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.185056902523504e-5
allele num: 16168
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 1.294e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.451e0

DP
type: SiteQuality
SIO_000300: 1.452685e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: -5.939e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 105
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GenotypeQuality
all individuals: 439
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 55
allele frequency: 8.418539153860283e-4
allele num: 65332
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.126378435147909e-4
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.66616176916086e-3
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 1.466271e6

QD
type: SiteQuality
SIO_000300: 1.323e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.138735420503377e-5
allele num: 16290
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 1.466991e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.482e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.225e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.343e0

FS
type: SiteQuality
SIO_000300: 1.013e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 145
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526670941345302e-5
allele num: 65502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
SIO_000300: 1.468923e6

MQ
type: SiteQuality
SIO_000300: 6.083e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.03e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.03e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.34192037470726e-4
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

DP
type: SiteQuality
SIO_000300: 1.469791e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.124e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.037e1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.626834253637999e-5
allele num: 65558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

DP
type: SiteQuality
SIO_000300: 1.470533e6

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
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variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 1
allele frequency: 1.043187982474442e-4
allele num: 9586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524855138761818e-5
allele num: 65580
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.102e0

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
type: SiteQuality
SIO_000300: 1.470792e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 908
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170138076293003e-4
allele num: 8546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 4.718e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 1.471586e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 7.74e0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 50289
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65626
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 17
allele frequency: 1.041028781383956e-3
allele num: 16330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.472884e6

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 104
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522209029743965e-5
allele num: 65694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.224589762429586e-4
allele num: 16332
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

FS
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

DP
type: SiteQuality
SIO_000300: 1.473385e6

QD
type: SiteQuality
SIO_000300: 1.246e1

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 132
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GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
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: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.836884643644379e-4
allele num: 16332
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.759e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.473299e6

QD
type: SiteQuality
SIO_000300: 1.349e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166044776119403e-4
allele num: 8576
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.295e0

QD
type: SiteQuality
SIO_000300: 1.054e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

DP
type: SiteQuality
SIO_000300: 1.473809e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.542e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.394e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.515e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.2627e1

DP
type: SiteQuality
SIO_000300: 1.473861e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.833e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 136
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520542529574552e-5
allele num: 65766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.385e0

QD
type: SiteQuality
SIO_000300: 1.089e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.471952e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 1268
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8068
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.901311249137337e-5
allele num: 14490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.551166e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

FS
type: SiteQuality
SIO_000300: 1.267e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1600
bin: 3.75e1
variant carriers: 157

GenotypeQuality
all individuals: 3982
bin: 2.25e1
variant carriers: 78

GenotypeQuality
all individuals: 1511
bin: 2.75e1
variant carriers: 82

GenotypeQuality
all individuals: 662
bin: 4.75e1
variant carriers: 244

GenotypeQuality
all individuals: 2261
bin: 3.25e1
variant carriers: 140

GenotypeQuality
all individuals: 691
bin: 5.25e1
variant carriers: 282

GenotypeQuality
all individuals: 764
bin: 7.75e1
variant carriers: 293

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 36

GenotypeQuality
all individuals: 238
bin: 7.5e0
variant carriers: 29

GenotypeQuality
all individuals: 2134
bin: 6.75e1
variant carriers: 380

European (Finnish)
type: Population
allele count: 2480
allele frequency: 3.777033201340237e-1
allele num: 6566
num of homozygotes: 463

Other
type: Population
allele count: 214
allele frequency: 2.476851851851852e-1
allele num: 864
num of homozygotes: 37

East Asian
type: Population
allele count: 4243
allele frequency: 5.032020872865275e-1
allele num: 8432
num of homozygotes: 1075

South Asian
type: Population
allele count: 3136
allele frequency: 2.037422037422038e-1
allele num: 15392
num of homozygotes: 344

Latino
type: Population
allele count: 1218
allele frequency: 1.071617103642442e-1
allele num: 11366
num of homozygotes: 81

African
type: Population
allele count: 1418
allele frequency: 1.508510638297872e-1
allele num: 9400
num of homozygotes: 103

European (Non-Finnish)
type: Population
allele count: 17642
allele frequency: 2.74626400996264e-1
allele num: 64240
num of homozygotes: 2422

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.601385e6

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e0

QD
type: SiteQuality
SIO_000300: 1.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 578
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7158
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2612
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3389
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14698
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.424778761061947e-4
allele num: 11300
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.906138325796148e-5
allele num: 63242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.379707e6

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.697e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

GenotypeQuality
all individuals: 531
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5821
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20691
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.22040517451794e-4
allele num: 8194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9256
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

FS
type: SiteQuality
SIO_000300: 1.656e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
type: SiteQuality
SIO_000300: 1.367997e6

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-2

QD
type: SiteQuality
SIO_000300: 1.116e1

MQ
type: SiteQuality
SIO_000300: 6.043e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

GenotypeQuality
all individuals: 548
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2854
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596678907871627e-5
allele num: 62630
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 3.203e0

MQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.347269e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

GenotypeQuality
all individuals: 5557
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13382
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5469
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 661
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4664
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3092
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10760
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.151808339092375e-4
allele num: 8682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.033947957952783e-4
allele num: 58030
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.844e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQ
type: SiteQuality
SIO_000300: 5.868e1

VQSLOD
type: SiteQuality
SIO_000300: -8.532999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

QD
type: SiteQuality
SIO_000300: 1.324e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 1.280603e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

GenotypeQuality
all individuals: 639
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 465
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5991
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58094
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7336
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.716818914562064e-5
allele num: 14888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.291522e6

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

GenotypeQuality
all individuals: 3445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.151543067710732e-4
allele num: 8684
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58118
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.631e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.295245e6

GenotypeQuality
all individuals: 3582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2700
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22974
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715324710967786e-5
allele num: 58298
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.32723e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6268
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3138
bin: 9.75e1
variant carriers: 184

GenotypeQuality
all individuals: 171
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.306878306878307e-4
allele num: 15120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.128158844765343e-4
allele num: 8864
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.741228070175438e-4
allele num: 10944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

East Asian
type: Population
allele count: 179
allele frequency: 2.337424915121442e-2
allele num: 7658
num of homozygotes: 3

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.78e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 5.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.430278e6

QD
type: SiteQuality
SIO_000300: 1.413e1

GenotypeQuality
all individuals: 588
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.348e0

MQ
type: SiteQuality
SIO_000300: 5.657e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.48726e6

VQSLOD
type: SiteQuality
SIO_000300: -3.677e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 2.0754e1

GenotypeQuality
all individuals: 181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
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variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.647555028337947e-5
allele num: 60696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.49532e6

MQ
type: SiteQuality
SIO_000300: 5.674e1

VQSLOD
type: SiteQuality
SIO_000300: -1.383e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.276e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 5.418e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

QD
type: SiteQuality
SIO_000300: 1.84e1

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 8.25e1
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GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
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variant carriers: 0

GenotypeQuality
all individuals: 436
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variant carriers: 0

GenotypeQuality
all individuals: 4561
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.387327542156362e-5
allele num: 15656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61856
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 3.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 1.534478e6

QD
type: SiteQuality
SIO_000300: 1.264e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

GenotypeQuality
all individuals: 384
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
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GenotypeQuality
all individuals: 323
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GenotypeQuality
all individuals: 118
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GenotypeQuality
all individuals: 560
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GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 2991
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variant carriers: 1

GenotypeQuality
all individuals: 1195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.216249087813184e-4
allele num: 8222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.11e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

VQSLOD
type: SiteQuality
SIO_000300: -1.261e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.736e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

DP
type: SiteQuality
SIO_000300: 1.551077e6

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 586
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variant carriers: 0

GenotypeQuality
all individuals: 350
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GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 356
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GenotypeQuality
all individuals: 744
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variant carriers: 0

GenotypeQuality
all individuals: 326
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variant carriers: 0

GenotypeQuality
all individuals: 4574
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597035901367063e-5
allele num: 62616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.595876e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 1.485e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.688e0

VQSLOD
type: SiteQuality
SIO_000300: -6.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.83e-1

GenotypeQuality
all individuals: 1066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 957
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variant carriers: 0

GenotypeQuality
all individuals: 460
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variant carriers: 0

GenotypeQuality
all individuals: 1978
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GenotypeQuality
all individuals: 443
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GenotypeQuality
all individuals: 4367
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variant carriers: 0

GenotypeQuality
all individuals: 1068
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 1182
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variant carriers: 0

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.84016973125884e-5
allele num: 11312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60814
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

VQSLOD
type: SiteQuality
SIO_000300: -2.46e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.219e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

DP
type: SiteQuality
SIO_000300: 1.68614e6

FS
type: SiteQuality
SIO_000300: 1.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

QD
type: SiteQuality
SIO_000300: 9.83e0

GenotypeQuality
all individuals: 3045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1011
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
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variant carriers: 0

GenotypeQuality
all individuals: 190
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 979
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variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663616702711695e-5
allele num: 60110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

FS
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.85e1

DP
type: SiteQuality
SIO_000300: 1.712568e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.808e-1

GenotypeQuality
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
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variant carriers: 2

GenotypeQuality
all individuals: 1139
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GenotypeQuality
all individuals: 34670
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GenotypeQuality
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GenotypeQuality
all individuals: 165
bin: 1.25e1
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GenotypeQuality
all individuals: 2422
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GenotypeQuality
all individuals: 247
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GenotypeQuality
all individuals: 676
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variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15366
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.136295663319803e-4
allele num: 9362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58720
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.572e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 1.746e1

MQ
type: SiteQuality
SIO_000300: 5.812e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

FS
type: SiteQuality
SIO_000300: 4.831e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

DP
type: SiteQuality
SIO_000300: 1.743008e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

GenotypeQuality
all individuals: 144
bin: 3.25e1
variant carriers: 38

GenotypeQuality
all individuals: 2780
bin: 6.75e1
variant carriers: 78

GenotypeQuality
all individuals: 27972
bin: 6.25e1
variant carriers: 117

GenotypeQuality
all individuals: 548
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variant carriers: 140

GenotypeQuality
all individuals: 58
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variant carriers: 18

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 26

GenotypeQuality
all individuals: 869
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GenotypeQuality
all individuals: 163
bin: 4.75e1
variant carriers: 77

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 138

GenotypeQuality
all individuals: 25496
bin: 9.75e1
variant carriers: 24759

GenotypeQuality
all individuals: 629
bin: 7.25e1
variant carriers: 152

East Asian
type: Population
allele count: 4275
allele frequency: 4.991826249416161e-1
allele num: 8564
num of homozygotes: 1071

South Asian
type: Population
allele count: 3244
allele frequency: 1.98167379352474e-1
allele num: 16370
num of homozygotes: 353

African
type: Population
allele count: 1233
allele frequency: 1.277720207253886e-1
allele num: 9650
num of homozygotes: 75

European (Finnish)
type: Population
allele count: 2473
allele frequency: 3.762933657942787e-1
allele num: 6572
num of homozygotes: 455

Latino
type: Population
allele count: 1208
allele frequency: 1.053549624978196e-1
allele num: 11466
num of homozygotes: 79

European (Non-Finnish)
type: Population
allele count: 17983
allele frequency: 2.745077087467562e-1
allele num: 65510
num of homozygotes: 2443

Other
type: Population
allele count: 217
allele frequency: 2.438202247191011e-1
allele num: 890
num of homozygotes: 36

VQSLOD
type: SiteQuality
SIO_000300: 6.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.96e-2

QD
type: SiteQuality
SIO_000300: 2.118e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 2.194909e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538650910881339e-5
allele num: 64992
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -2.782e0

FS
type: SiteQuality
SIO_000300: 2.013e0

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.578378e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.046e0

QD
type: SiteQuality
SIO_000300: 2.9e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1100
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 9.25e1
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 68
bin: 4.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 6185
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variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.195e1

MQ
type: SiteQuality
SIO_000300: 5.86e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.297e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.572e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.076e0

DP
type: SiteQuality
SIO_000300: 1.572278e6

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6090
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
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GenotypeQuality
all individuals: 3269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549666821633349e-5
allele num: 64530
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.75284837861525e-4
allele num: 11410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.151e1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.857e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

DP
type: SiteQuality
SIO_000300: 1.559544e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4760
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 383
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GenotypeQuality
all individuals: 5964
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 167
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variant carriers: 0

GenotypeQuality
all individuals: 138
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GenotypeQuality
all individuals: 1344
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.815232722143864e-5
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 9.49e0

DP
type: SiteQuality
SIO_000300: 1.536168e6

VQSLOD
type: SiteQuality
SIO_000300: -1.882e0

GenotypeQuality
all individuals: 705
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8065
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variant carriers: 0

GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 875
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variant carriers: 0

GenotypeQuality
all individuals: 98
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variant carriers: 0

GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 206
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GenotypeQuality
all individuals: 1334
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 41142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.191421459117891e-5
allele num: 62668
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.087429317094389e-4
allele num: 9196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

QD
type: SiteQuality
SIO_000300: 1.093e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.484164e6

GenotypeQuality
all individuals: 26418
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
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variant carriers: 0

GenotypeQuality
all individuals: 3270
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 191
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GenotypeQuality
all individuals: 1450
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variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.475247524752475e-4
allele num: 8080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

DP
type: SiteQuality
SIO_000300: 1.215728e6

QD
type: SiteQuality
SIO_000300: 1.905e1

FS
type: SiteQuality
SIO_000300: 1.993e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

GenotypeQuality
all individuals: 223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23858
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variant carriers: 0

GenotypeQuality
all individuals: 253
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variant carriers: 0

GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 222
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GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 729
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 19883
bin: 6.25e1
variant carriers: 1

Latino
type: Population
allele count: 10
allele frequency: 1.020616452337212e-3
allele num: 9798
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 1.09668e6

FS
type: SiteQuality
SIO_000300: 1.424e0

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.997e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

QD
type: SiteQuality
SIO_000300: 1.336e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 1323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 218
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GenotypeQuality
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GenotypeQuality
all individuals: 271
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GenotypeQuality
all individuals: 809
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.847063169560399e-4
allele num: 5414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37960
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.877e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 7.66553e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 7.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeQuality
all individuals: 3872
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 311
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 518
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variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.945334590009425e-5
allele num: 33952
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

VQSLOD
type: SiteQuality
SIO_000300: -1.724e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

DP
type: SiteQuality
SIO_000300: 7.21896e5

GenotypeQuality
all individuals: 506
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.25e1
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GenotypeQuality
all individuals: 96
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3647
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GenotypeQuality
all individuals: 2518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.006420545746388e-4
allele num: 4984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33916
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.2154e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 6.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.057e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.701e1

GenotypeQuality
all individuals: 9760
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.263833992094861e-5
allele num: 32384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2348
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.14302e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.626e-1

QD
type: SiteQuality
SIO_000300: 1.625e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 1385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10145
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variant carriers: 0

GenotypeQuality
all individuals: 1886
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variant carriers: 1

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

GenotypeQuality
all individuals: 1323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.235617679415001e-5
allele num: 30906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 2.324e0

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 7.12754e5

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.325e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

GenotypeQuality
all individuals: 1105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 5.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 1432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 5.004003202562049e-4
allele num: 9992
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 6.628285735929097e-4
allele num: 52804
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.412351238340302e-4
allele num: 12436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.246589716684155e-4
allele num: 5718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 1.134368e6

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

FS
type: SiteQuality
SIO_000300: 1.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.113e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

GenotypeQuality
all individuals: 455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9268
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3647
bin: 9.75e1
variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 661
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variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

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

East Asian
type: Population
allele count: 14
allele frequency: 1.857256566728575e-3
allele num: 7538
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.188e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.113e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.134368e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

GenotypeQuality
all individuals: 15082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 445
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GenotypeQuality
all individuals: 3610
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 687
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variant carriers: 0

GenotypeQuality
all individuals: 3626
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2027
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GenotypeQuality
all individuals: 2018
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.873992728908212e-5
allele num: 53362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 9.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 1.177777e6

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -1.411e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3621
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.306165099268548e-4
allele num: 7656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53818
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.211917e6

QD
type: SiteQuality
SIO_000300: 1.002e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.416e0

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.81910790948119e-5
allele num: 54972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.275169e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

FS
type: SiteQuality
SIO_000300: 3.251e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4258
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.41399762752076e-5
allele num: 13488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.879e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.23e-1

QD
type: SiteQuality
SIO_000300: 7.41e0

FS
type: SiteQuality
SIO_000300: 4.172e0

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.315152e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.774182102050955e-5
allele num: 56364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.508e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.171e1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -4.369e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.329713e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3652
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GenotypeQuality
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GenotypeQuality
all individuals: 1524
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GenotypeQuality
all individuals: 31363
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.72271223814774e-5
allele num: 58048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.167431192660551e-5
allele num: 13952
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 6.07e0

MQ
type: SiteQuality
SIO_000300: 6.124e1

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 1.378537e6

GenotypeQuality
all individuals: 293
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6615
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.050197405527355e-5
allele num: 14184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.400798e6

FS
type: SiteQuality
SIO_000300: 6.932e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

GenotypeQuality
all individuals: 3695
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2243
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4252
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.025424544958428e-5
allele num: 62302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.838e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.466651e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -8.237e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 833
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5337
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597546169084287e-5
allele num: 62596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.91e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

FS
type: SiteQuality
SIO_000300: 9.84e-1

DP
type: SiteQuality
SIO_000300: 1.472269e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.237e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 322
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5366
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8786
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.466472303206997e-4
allele num: 10976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.475842e6

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1