19-49424429-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424429
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424429
    reference: chr 19
allele count: 2
allele frequency: 1.714119199849158e-5
allele num: 116678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.647G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1021G>C
  hgvsp: ENSP00000385923.3:p.Ala341Pro
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1021G>C
  hgvsp: ENSP00000385211.1:p.Ala341Pro
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.53G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.306G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.490G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1021G>C
  hgvsp: ENSP00000263273.5:p.Ala341Pro
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala341Pro
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-49424434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424434
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424434
    reference: chr 19
allele count: 2
allele frequency: 1.709898603012841e-5
allele num: 116966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1026C>T
  hgvsp: ENST00000407032.1:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.311C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1026C>T
  hgvsp: ENST00000263273.5:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1026C>T
  hgvsp: ENST00000405315.4:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.495C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.652C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.58C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr342Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

19-49424436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424436
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424436
    reference: chr 19
allele count: 1
allele frequency: 8.546132020647455e-6
allele num: 117012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.60C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.497C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1028C>T
  hgvsp: ENSP00000263273.5:p.Thr343Ile
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1028C>T
  hgvsp: ENSP00000385923.3:p.Thr343Ile
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.654C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1028C>T
  hgvsp: ENSP00000385211.1:p.Thr343Ile
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.313C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr343Ile
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-49424437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424437
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424437
    reference: chr 19
allele count: 18
allele frequency: 1.538593042140354e-4
allele num: 116990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.655C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1029C>T
  hgvsp: ENST00000263273.5:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1029C>T
  hgvsp: ENST00000407032.1:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.314C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.61C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.498C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1029C>T
  hgvsp: ENST00000405315.4:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26990
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr343Thr
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-49424438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424438
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424438
    reference: chr 19
allele count: 109
allele frequency: 9.306535065999556e-4
allele num: 117122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1030G>A
  hgvsp: ENSP00000263273.5:p.Glu344Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1030G>A
  hgvsp: ENSP00000385211.1:p.Glu344Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.656G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1030G>A
  hgvsp: ENSP00000385923.3:p.Glu344Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.315G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.62G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.499G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14322
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu344Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-49424441-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424441
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424441
    reference: chr 19
allele count: 1
allele frequency: 8.537668192063383e-6
allele num: 117128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1033G>T
  hgvsp: ENSP00000385211.1:p.Glu345Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.502G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.659G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.318G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1033G>T
  hgvsp: ENSP00000263273.5:p.Glu345Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1033G>T
  hgvsp: ENSP00000385923.3:p.Glu345Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.65G>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu345Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-49424444-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424444
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424444
    reference: chr 19
allele count: 1
allele frequency: 8.541752084187508e-6
allele num: 117072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.68G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.321G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1036G>C
  hgvsp: ENSP00000385923.3:p.Glu346Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.662G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1036G>C
  hgvsp: ENSP00000385211.1:p.Glu346Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.505G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1036G>C
  hgvsp: ENSP00000263273.5:p.Glu346Gln
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu346Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

19-49424446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424446
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424446
    reference: chr 19
allele count: 1
allele frequency: 8.541752084187508e-6
allele num: 117072
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1038G>C
  hgvsp: ENSP00000385923.3:p.Glu346Asp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.323G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1038G>C
  hgvsp: ENSP00000385211.1:p.Glu346Asp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1038G>C
  hgvsp: ENSP00000263273.5:p.Glu346Asp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.70G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.507G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.664G>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27128
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu346Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-49424452-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424452
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424452
    reference: chr 19
allele count: 1
allele frequency: 8.550370231031004e-6
allele num: 116954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.670G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1044G>T
  hgvsp: ENSP00000385211.1:p.Arg348Ser
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.76G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1044G>T
  hgvsp: ENSP00000385923.3:p.Arg348Ser
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.513G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.329G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1044G>T
  hgvsp: ENSP00000263273.5:p.Arg348Ser
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg348Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-49424454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424454
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424454
    reference: chr 19
allele count: 2
allele frequency: 1.711332443440463e-5
allele num: 116868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1046G>A
  hgvsp: ENSP00000263273.5:p.Arg349His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.78G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1046G>A
  hgvsp: ENSP00000385923.3:p.Arg349His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.515G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.331G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1046G>A
  hgvsp: ENSP00000385211.1:p.Arg349His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.672G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg349His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-49424477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424477
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424477
    reference: chr 19
allele count: 14
allele frequency: 1.245529438977954e-4
allele num: 112402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.354C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1069C>T
  hgvsp: ENSP00000385211.1:p.Arg357Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1069C>T
  hgvsp: ENSP00000385923.3:p.Arg357Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1069C>T
  hgvsp: ENSP00000263273.5:p.Arg357Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.538C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.695C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.101C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12495
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10980
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24407
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg357Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-49424478-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424478
    reference: chr 19
allele count: 2
allele frequency: 1.794687724335966e-5
allele num: 111440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1070G>A
  hgvsp: ENSP00000385211.1:p.Arg357Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1070G>A
  hgvsp: ENSP00000263273.5:p.Arg357Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1070G>A
  hgvsp: ENSP00000385923.3:p.Arg357Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.539G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.355G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.102G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.696G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10605
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6215
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg357Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-49424480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424480
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424480
    reference: chr 19
allele count: 4
allele frequency: 3.600943447183162e-5
allele num: 111082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.357G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.698G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.104G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1072G>A
  hgvsp: ENSP00000263273.5:p.Glu358Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1072G>A
  hgvsp: ENSP00000385923.3:p.Glu358Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1072G>A
  hgvsp: ENSP00000385211.1:p.Glu358Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.541G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23679
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu358Lys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-49424482-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424482
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424482
    reference: chr 19
allele count: 99
allele frequency: 9.010812975570685e-4
allele num: 109868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.700G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.543G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.359G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1074G>T
  hgvsp: ENSP00000385211.1:p.Glu358Asp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1074G>T
  hgvsp: ENSP00000385923.3:p.Glu358Asp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1074G>T
  hgvsp: ENSP00000263273.5:p.Glu358Asp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.106G>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22831
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu358Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49424508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424508
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424508
    reference: chr 19
allele count: 4
allele frequency: 5.053567818880129e-5
allele num: 79152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1100G>A
  hgvsp: ENSP00000385923.3:p.Arg367His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.385G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.726G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1100G>A
  hgvsp: ENSP00000263273.5:p.Arg367His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1100G>A
  hgvsp: ENSP00000385211.1:p.Arg367His
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.132G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.569G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11346
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg367His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-49424518-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424518
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424518
    reference: chr 19
allele count: 1
allele frequency: 1.36302919608538e-5
allele num: 73366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1110G>A
  hgvsp: ENST00000263273.5:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1110G>A
  hgvsp: ENST00000405315.4:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.142G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.736G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1110G>A
  hgvsp: ENST00000407032.1:c.1110G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.395G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000469291
  gene symbol: NUCB1
  hgvsc: ENST00000469291.1:n.579G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15463
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln370Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-49424525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424525
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424525
    reference: chr 19
allele count: 1
allele frequency: 1.45895947010592e-5
allele num: 68542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.743G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.149G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1117G>A
  hgvsp: ENSP00000385923.3:p.Glu373Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.402G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1117G>A
  hgvsp: ENSP00000385211.1:p.Glu373Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1117G>A
  hgvsp: ENSP00000263273.5:p.Glu373Lys
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16234
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu373Lys
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: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-49424533-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424533
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424533
    reference: chr 19
allele count: 2
allele frequency: 3.144357450554979e-5
allele num: 63606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.157A>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1125A>C
  hgvsp: ENST00000263273.5:c.1125A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1125A>C
  hgvsp: ENST00000407032.1:c.1125A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.410A>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1125A>C
  hgvsp: ENST00000405315.4:c.1125A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.751A>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16081
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4891
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32937
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu375Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49424534-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424534
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424534
    reference: chr 19
allele count: 3
allele frequency: 4.762963198171022e-5
allele num: 62986
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1126G>C
  hgvsp: ENSP00000385923.3:p.Gly376Arg
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.158G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1126G>C
  hgvsp: ENSP00000263273.5:p.Gly376Arg
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.411G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1126G>C
  hgvsp: ENSP00000385211.1:p.Gly376Arg
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.752G>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16050
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly376Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-49424537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424537
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424537
    reference: chr 19
allele count: 3
allele frequency: 4.984713545128273e-5
allele num: 60184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.755C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.414C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1129C>T
  hgvsp: ENSP00000385211.1:p.Arg377Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.161C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1129C>T
  hgvsp: ENSP00000385923.3:p.Arg377Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1129C>T
  hgvsp: ENSP00000263273.5:p.Arg377Trp
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg377Trp
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-49424538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424538
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424538
    reference: chr 19
allele count: 3
allele frequency: 5.038460246548655e-5
allele num: 59542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.756G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.415G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1130G>A
  hgvsp: ENSP00000385923.3:p.Arg377Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.162G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1130G>A
  hgvsp: ENSP00000385211.1:p.Arg377Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1130G>A
  hgvsp: ENSP00000263273.5:p.Arg377Gln
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15678
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg377Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

19-49424539-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424539
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424539
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 59068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.163G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1131G>C
  hgvsp: ENST00000405315.4:c.1131G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1131G>C
  hgvsp: ENST00000407032.1:c.1131G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.416G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.757G>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1131G>C
  hgvsp: ENST00000263273.5:c.1131G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24748
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg377Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

19-49424542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424542
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424542
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 56242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1134C>T
  hgvsp: ENST00000263273.5:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1134C>T
  hgvsp: ENST00000405315.4:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.419C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.166C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.760C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1134C>T
  hgvsp: ENST00000407032.1:c.1134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25236
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser378Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-49424548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424548
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424548
    reference: chr 19
allele count: 1
allele frequency: 1.90715947667544e-5
allele num: 52434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1140C>T
  hgvsp: ENST00000407032.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1140C>T
  hgvsp: ENST00000263273.5:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.172C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1140C>T
  hgvsp: ENST00000405315.4:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.425C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.766C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32709
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly380Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

19-49424554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424554
    reference: chr 19
allele count: 1
allele frequency: 2.027081813021974e-5
allele num: 49332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1146G>A
  hgvsp: ENST00000407032.1:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.772G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1146G>A
  hgvsp: ENST00000405315.4:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1146G>A
  hgvsp: ENST00000263273.5:c.1146G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.431G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.178G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8645
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu382Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

19-49424563-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424563
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424563
    reference: chr 19
allele count: 1
allele frequency: 2.176373291546966e-5
allele num: 45948
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1155G>A
  hgvsp: ENST00000405315.4:c.1155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.781G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.440G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1155G>A
  hgvsp: ENST00000407032.1:c.1155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.187G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1155G>A
  hgvsp: ENST00000263273.5:c.1155G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26560
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12404
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln385Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

19-49424570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424570
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 43560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1162G>A
  hgvsp: ENSP00000385923.3:p.Glu388Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.788G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.447G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1162G>A
  hgvsp: ENSP00000263273.5:p.Glu388Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1162G>A
  hgvsp: ENSP00000385211.1:p.Glu388Lys
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.194G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25402
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13052
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Glu388Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

19-49424573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424573
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424573
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 42060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.197C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1165C>T
  hgvsp: ENST00000263273.5:c.1165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.791C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1165C>T
  hgvsp: ENST00000405315.4:c.1165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1165C>T
  hgvsp: ENST00000407032.1:c.1165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.450C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24651
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu389Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-49424579-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424579
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424579
    reference: chr 19
allele count: 1
allele frequency: 2.730599093441101e-5
allele num: 36622
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1171C>G
  hgvsp: ENSP00000263273.5:p.Gln391Glu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.456C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1171C>G
  hgvsp: ENSP00000385923.3:p.Gln391Glu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1171C>G
  hgvsp: ENSP00000385211.1:p.Gln391Glu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.797C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.203C>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln391Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-49424587-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424587
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424587
    reference: chr 19
allele count: 1
allele frequency: 3.231226573607342e-5
allele num: 30948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+6A>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+6A>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+6A>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+6A>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+6A>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+6A>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22488
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1173+6A>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

19-49424591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424591
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424591
    reference: chr 19
allele count: 1
allele frequency: 3.404371212637026e-5
allele num: 29374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+10G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+10G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20155
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

19-49424592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424592
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424592
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 28986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+11G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+11G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+11G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+11G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+11G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+11G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19921
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19810
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

19-49424601-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424601
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424601
    reference: chr 19
allele count: 1
allele frequency: 4.003843689942344e-5
allele num: 24976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+20C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+20C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+20C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+20C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+20C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+20C>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28503
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

19-49424604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424604
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 24812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+23C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+23C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+23C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+23C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+23C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+23C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15998
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-49424610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424610
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424610
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 23428
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+29A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+29A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31053
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-49424628-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424628
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424628
    reference: chr 19
allele count: 1
allele frequency: 5.266484095218032e-5
allele num: 18988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+47C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+47C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+47C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+47C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+47C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+47C>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30046
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-49424628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424628
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424628
    reference: chr 19
allele count: 1
allele frequency: 5.266484095218032e-5
allele num: 18988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+47C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+47C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+47C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+47C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+47C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+47C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

19-49424629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424629
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424629
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+48G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+48G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+48G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+48G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+48G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+48G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34809
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4979
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

19-49424634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424634
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424634
    reference: chr 19
allele count: 1
allele frequency: 5.288207297726071e-5
allele num: 18910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+53C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+53C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+53C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+53C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+53C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+53C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

19-49424635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424635
    reference: chr 19
allele count: 97
allele frequency: 5.168371696504689e-3
allele num: 18768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+54G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+54G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+54G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+54G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+54G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+54G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 7.5e0
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34610
  bin: 2.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 5796
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 29352
  bin: 7.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 3
num of homozygotes: 1
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-49424635-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424635
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424635
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 18768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+54G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+54G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+54G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+54G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+54G>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+54G>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29352
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

19-49424639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424639
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424639
    reference: chr 19
allele count: 159
allele frequency: 8.507223113964686e-3
allele num: 18690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+58C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+58C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+58C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+58C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+58C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+58C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34648
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 7.5e0
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 28936
  bin: 7.5e0
  variant carriers: 21
num of homozygotes: 4
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

19-49424643-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49424643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49424643
    reference: chr 19
allele count: 1
allele frequency: 5.383869925702595e-5
allele num: 18574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.458+62A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1173+62A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.205+62A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1173+62A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.799+62A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1173+62A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3445
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

19-49425036-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425036
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425036
    reference: chr 19
allele count: 1
allele frequency: 8.634087376964255e-6
allele num: 115820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-48A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-48A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-48A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-48A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-48A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-48A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9510
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-49425048-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425048
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425048
    reference: chr 19
allele count: 1
allele frequency: 8.634982039237358e-6
allele num: 115808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-36C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-36C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-36C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-36C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-36C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-36C>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37061
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

19-49425048-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425048
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425048
    reference: chr 19
allele count: 2
allele frequency: 1.726996407847472e-5
allele num: 115808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-36C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-36C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-36C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-36C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-36C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-36C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49425051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425051
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425051
    reference: chr 19
allele count: 4
allele frequency: 3.45452975213749e-5
allele num: 115790
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-33C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-33C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-33C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-33C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-33C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-33C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

19-49425052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425052
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425052
    reference: chr 19
allele count: 1
allele frequency: 8.635131167642436e-6
allele num: 115806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-32C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-32C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-32C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-32C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-32C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-32C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

19-49425065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425065
    reference: chr 19
allele count: 12
allele frequency: 1.036144162191099e-4
allele num: 115814
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-19G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-19G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-19G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-19G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-19G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-19G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-49425066-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425066
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425067
    reference: chr 19
allele count: 33
allele frequency: 2.84998704551343e-4
allele num: 115790
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-12dupC
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-12dupC
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-12dupC
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-12dupC
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-12dupC
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-12dupC
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25607
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37160
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 9.75e1
  variant carriers: 33
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

19-49425069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425069
    reference: chr 19
allele count: 2
allele frequency: 1.726608767719322e-5
allele num: 115834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-15C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-15C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-15C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-15C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-15C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-15C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-49425072-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425072
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425072
    reference: chr 19
allele count: 1
allele frequency: 8.633789197402956e-6
allele num: 115824
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-12C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-12C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-12C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-12C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-12C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-12C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/19-49425073-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425073
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425073
    reference: chr 19
allele count: 1
allele frequency: 8.633938284609141e-6
allele num: 115822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-11A>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-11A>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-11A>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-11A>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-11A>C
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-11A>C
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37154
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49425079-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425079
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425079
    reference: chr 19
allele count: 1
allele frequency: 8.637070305752289e-6
allele num: 115780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1174-5C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.206-5C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1174-5C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1174-5C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.800-5C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.459-5C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1174-5C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-49425096-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425096
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425096
    reference: chr 19
allele count: 1
allele frequency: 8.653812869950501e-6
allele num: 115556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.218A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1186A>G
  hgvsp: ENSP00000263273.5:p.Met396Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.471A>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1186A>G
  hgvsp: ENSP00000385211.1:p.Met396Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1186A>G
  hgvsp: ENSP00000385923.3:p.Met396Val
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.812A>G
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met396Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-49425105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425105
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425105
    reference: chr 19
allele count: 4
allele frequency: 3.484624096175625e-5
allele num: 114790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.480C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1195C>T
  hgvsp: ENSP00000263273.5:p.Arg399Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.821C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.227C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1195C>T
  hgvsp: ENSP00000385923.3:p.Arg399Trp
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1195C>T
  hgvsp: ENSP00000385211.1:p.Arg399Trp
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg399Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-49425106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425106
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425106
    reference: chr 19
allele count: 13
allele frequency: 1.133984647592463e-4
allele num: 114640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.822G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1196G>A
  hgvsp: ENSP00000385923.3:p.Arg399Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1196G>A
  hgvsp: ENSP00000385211.1:p.Arg399Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.481G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.228G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1196G>A
  hgvsp: ENSP00000263273.5:p.Arg399Gln
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8579
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg399Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

19-49425106-G-GGAAGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425106
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425112
    reference: chr 19
allele count: 3
allele frequency: 2.6168876482903e-5
allele num: 114640
alternate allele: GGAAGCA
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1198_1203dupAAGCAG
  hgvsp: ENSP00000385923.3:p.Lys400_Gln401dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1198_1203dupAAGCAG
  hgvsp: ENSP00000385211.1:p.Lys400_Gln401dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.483_488dupAAGCAG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1198_1203dupAAGCAG
  hgvsp: ENSP00000263273.5:p.Lys400_Gln401dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.230_235dupAAGCAG
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.824_829dupAAGCAG
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24637
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys400_Gln401dup
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-49425108-A-AAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425111
    reference: chr 19
allele count: 7
allele frequency: 6.178942165101334e-5
allele num: 113288
alternate allele: AAGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.250_252dupGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1218_1220dupGCA
  hgvsp: ENSP00000385211.1:p.Gln407dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1218_1220dupGCA
  hgvsp: ENSP00000385923.3:p.Gln407dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.503_505dupGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1218_1220dupGCA
  hgvsp: ENSP00000263273.5:p.Gln407dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.835_837dupGCA
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24416
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln407dup
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

19-49425108-AAGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425105
    reference: chr 19
allele count: 75
allele frequency: 6.620295176894287e-4
allele num: 113288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1218_1220delGCA
  hgvsp: ENSP00000385211.1:p.Gln407del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1218_1220delGCA
  hgvsp: ENSP00000263273.5:p.Gln407del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1218_1220delGCA
  hgvsp: ENSP00000385923.3:p.Gln407del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.503_505delGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.835_837delGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.250_252delGCA
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24416
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 4
hgvs: p.Gln407del
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: AAGC
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-49425108-AAGCAGCAGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425099
    reference: chr 19
allele count: 26
allele frequency: 2.295035661323353e-4
allele num: 113288
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 24416
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 11
  allele frequency: 1.777461784571632e-4
  allele num: 61886
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8424
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 10
  allele frequency: 8.928571428571428e-4
  allele num: 11200
  num of homozygotes: 0
population: African
  type: Population
  allele count: 4
  allele frequency: 4.668534080298786e-4
  allele num: 8568
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
reference allele: AAGCAGCAGC
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49425108-A-AAGCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425114
    reference: chr 19
allele count: 7
allele frequency: 6.178942165101334e-5
allele num: 113288
alternate allele: AAGCAGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.247_252dupGCAGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1215_1220dupGCAGCA
  hgvsp: ENSP00000263273.5:p.Gln406_Gln407dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.500_505dupGCAGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1215_1220dupGCAGCA
  hgvsp: ENSP00000385211.1:p.Gln406_Gln407dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1215_1220dupGCAGCA
  hgvsp: ENSP00000385923.3:p.Gln406_Gln407dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.829_834dupGCAGCA
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24416
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34656
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln406_Gln407dup
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

19-49425108-A-AAGCAGCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425117
    reference: chr 19
allele count: 2
allele frequency: 1.76541204717181e-5
allele num: 113288
alternate allele: AAGCAGCAGC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.825_833dupAGCAGCAGC
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.244_252dupGCAGCAGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsp: ENSP00000385923.3:p.Gln405_Gln407dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.497_505dupGCAGCAGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsp: ENSP00000385211.1:p.Gln405_Gln407dup
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsp: ENSP00000263273.5:p.Gln405_Gln407dup
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln405_Gln407dup
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-49425108-AAGCAGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425108
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425102
    reference: chr 19
allele count: 14
allele frequency: 1.235788433020267e-4
allele num: 113288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.829_834delGCAGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1215_1220delGCAGCA
  hgvsp: ENSP00000385211.1:p.Gln406_Gln407del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1215_1220delGCAGCA
  hgvsp: ENSP00000263273.5:p.Gln406_Gln407del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.500_505delGCAGCA
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1215_1220delGCAGCA
  hgvsp: ENSP00000385923.3:p.Gln406_Gln407del
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.247_252delGCAGCA
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24416
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln406_Gln407del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: AAGCAGC
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49425110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425110
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425110
    reference: chr 19
allele count: 1
allele frequency: 9.112115468727219e-6
allele num: 109744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1200G>A
  hgvsp: ENST00000263273.5:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.485G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1200G>A
  hgvsp: ENST00000407032.1:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.232G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1200G>A
  hgvsp: ENST00000405315.4:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000465524
  gene symbol: NUCB1
  hgvsc: ENST00000465524.1:n.826G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24336
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys400Lys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-49425129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425129
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425129
    reference: chr 19
allele count: 2
allele frequency: 1.913399536957312e-5
allele num: 104526
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1219C>T
  hgvsp: ENSP00000385923.3:p.Gln407Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.504C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1219C>T
  hgvsp: ENSP00000263273.5:p.Gln407Ter
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.251C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1219C>T
  hgvsp: ENSP00000385211.1:p.Gln407Ter
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10205
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22819
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln407Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

19-49425137-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425137
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425137
    reference: chr 19
allele count: 1
allele frequency: 9.96472487394623e-6
allele num: 100354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.512C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1227C>G
  hgvsp: ENSP00000385211.1:p.His409Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1227C>G
  hgvsp: ENSP00000263273.5:p.His409Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.259C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1227C>G
  hgvsp: ENSP00000385923.3:p.His409Gln
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20578
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15931
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His409Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-49425140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425140
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425140
    reference: chr 19
allele count: 1
allele frequency: 1.038551013625789e-5
allele num: 96288
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1230G>A
  hgvsp: ENST00000405315.4:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1230G>A
  hgvsp: ENST00000263273.5:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.515G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1230G>A
  hgvsp: ENST00000407032.1:c.1230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.262G>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys410Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-49425142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425142
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425142
    reference: chr 19
allele count: 1
allele frequency: 1.051568940859763e-5
allele num: 95096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.264C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1232C>G
  hgvsp: ENSP00000385923.3:p.Ala411Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1232C>G
  hgvsp: ENSP00000263273.5:p.Ala411Gly
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.517C>G
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1232C>G
  hgvsp: ENSP00000385211.1:p.Ala411Gly
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala411Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-49425145-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425145
    reference: chr 19
allele count: 17
allele frequency: 1.825875883401714e-4
allele num: 93106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1235C>A
  hgvsp: ENSP00000263273.5:p.Pro412Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.267C>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1235C>A
  hgvsp: ENSP00000385923.3:p.Pro412Gln
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.520C>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1235C>A
  hgvsp: ENSP00000385211.1:p.Pro412Gln
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11413
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16511
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24700
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro412Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-49425145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425145
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425145
    reference: chr 19
allele count: 4
allele frequency: 4.296178549180504e-5
allele num: 93106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.520C>T
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1235C>T
  hgvsp: ENSP00000385211.1:p.Pro412Leu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1235C>T
  hgvsp: ENSP00000263273.5:p.Pro412Leu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1235C>T
  hgvsp: ENSP00000385923.3:p.Pro412Leu
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.267C>T
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11413
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro412Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

19-49425146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425146
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425146
    reference: chr 19
allele count: 6
allele frequency: 6.455639000667082e-5
allele num: 92942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.268G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1236G>A
  hgvsp: ENST00000405315.4:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.521G>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1236G>A
  hgvsp: ENST00000263273.5:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1236G>A
  hgvsp: ENST00000407032.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11625
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro412Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-49425156-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49425156
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49425156
    reference: chr 19
allele count: 1
allele frequency: 1.207583625166043e-5
allele num: 82810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000485798
  gene symbol: NUCB1
  hgvsc: ENST00000485798.1:n.278C>A
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000263273
  ensembl transcript: ENST00000263273
  gene symbol: NUCB1
  hgvsc: ENST00000263273.5:c.1246C>A
  hgvsp: ENSP00000263273.5:p.Pro416Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385923
  ensembl transcript: ENST00000405315
  gene symbol: NUCB1
  hgvsc: ENST00000405315.4:c.1246C>A
  hgvsp: ENSP00000385923.3:p.Pro416Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104805
  ensembl protein: ENSP00000385211
  ensembl transcript: ENST00000407032
  gene symbol: NUCB1
  hgvsc: ENST00000407032.1:c.1246C>A
  hgvsp: ENSP00000385211.1:p.Pro416Thr
  variant of: http://identifiers.org/hgnc/8043
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104805
  ensembl transcript: ENST00000492367
  gene symbol: NUCB1
  hgvsc: ENST00000492367.1:n.531C>A
  variant of: http://identifiers.org/hgnc/8043
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro416Thr
num of homozygotes: 0
reference allele: C

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

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

GenotypeQuality
all individuals: 384
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64114
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.339181286549708e-4
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 1.628955e6

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

QD
type: SiteQuality
SIO_000300: 1.298e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 201
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.340276152586005e-4
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.986e0

FS
type: SiteQuality
SIO_000300: 7.299e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.634809e6

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

GenotypeQuality
all individuals: 111
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.936e0

FS
type: SiteQuality
SIO_000300: 2.935e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.636068e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.64e-1

GenotypeQuality
all individuals: 2325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 232
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variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743983257760725e-4
allele num: 11468
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.468259895444362e-4
allele num: 16068
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.233636703652911e-5
allele num: 64168
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.111e0

DP
type: SiteQuality
SIO_000300: 1.637423e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 108

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 94
allele frequency: 1.464402554915096e-3
allele num: 64190
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 13
allele frequency: 2.120717781402937e-3
allele num: 6130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.64078e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 2369
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
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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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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558117793705204e-5
allele num: 64180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 1.199e1

DP
type: SiteQuality
SIO_000300: 1.637737e6

MQ
type: SiteQuality
SIO_000300: 5.858e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.939e0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 273
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 7410
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variant carriers: 0

GenotypeQuality
all individuals: 43849
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 256
bin: 8.75e1
variant carriers: 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: 6092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558263471187709e-5
allele num: 64174
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.838e0

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 1.636956e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.21e1

GenotypeQuality
all individuals: 1417
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 97
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variant carriers: 0

GenotypeQuality
all individuals: 43797
bin: 6.25e1
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GenotypeQuality
all individuals: 223
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GenotypeQuality
all individuals: 257
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GenotypeQuality
all individuals: 240
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GenotypeQuality
all individuals: 1449
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variant carriers: 0

GenotypeQuality
all individuals: 274
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variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558457750210392e-5
allele num: 64166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
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: 16254
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.636831e6

MQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

FS
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 243
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GenotypeQuality
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GenotypeQuality
all individuals: 134
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GenotypeQuality
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GenotypeQuality
all individuals: 1422
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variant carriers: 1

GenotypeQuality
all individuals: 1448
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64098
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171234481143125e-4
allele num: 8538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.025e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

VQSLOD
type: SiteQuality
SIO_000300: -2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.63527e6

QD
type: SiteQuality
SIO_000300: 6.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.061e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 2662
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GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 81
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GenotypeQuality
all individuals: 266
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GenotypeQuality
all individuals: 43567
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GenotypeQuality
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GenotypeQuality
all individuals: 1570
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GenotypeQuality
all individuals: 126
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172058134083451e-4
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560939060939061e-5
allele num: 64064
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 1.635015e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 7.323e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
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GenotypeQuality
all individuals: 1244
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GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 425
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GenotypeQuality
all individuals: 581
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GenotypeQuality
all individuals: 409
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GenotypeQuality
all individuals: 218
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GenotypeQuality
all individuals: 1425
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variant carriers: 14

GenotypeQuality
all individuals: 1396
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.345982992765579e-5
allele num: 15758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.943697560659561e-4
allele num: 61738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.072041166380789e-4
allele num: 9328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10974
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

DP
type: SiteQuality
SIO_000300: 1.541598e6

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 6.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

GenotypeQuality
all individuals: 481
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 825
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7702
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.266906239790918e-5
allele num: 61220
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.520843e6

QD
type: SiteQuality
SIO_000300: 1.508e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

FS
type: SiteQuality
SIO_000300: 8.468999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.218e0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.860267314702309e-4
allele num: 8230
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61032
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.409e0

FS
type: SiteQuality
SIO_000300: 5.631e0

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 1.508861e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
all individuals: 476
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 98

GenotypeQuality
all individuals: 9322
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variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 7.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1307
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variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 85
allele frequency: 1.408357358252974e-3
allele num: 60354
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.25e-3
allele num: 800
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.093374152635032e-4
allele num: 9146
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.159958720330237e-4
allele num: 15504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.898253606681853e-4
allele num: 5268
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.812675792237015e-4
allele num: 10666
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.372e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

DP
type: SiteQuality
SIO_000300: 1.484364e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

GenotypeQuality
all individuals: 665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 2674
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variant carriers: 0

GenotypeQuality
all individuals: 188
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variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.474491300501327e-4
allele num: 6782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.648568240981777e-5
allele num: 43024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.795447458684128e-5
allele num: 12828
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

FS
type: SiteQuality
SIO_000300: 5.292e0

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.67663e5

GenotypeQuality
all individuals: 521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
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variant carriers: 0

GenotypeQuality
all individuals: 467
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variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 605
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variant carriers: 0

GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 203
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variant carriers: 0

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
all individuals: 30328
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39550
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.565925461948011e-4
allele num: 6386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3156
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.03191e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.08e-1

GenotypeQuality
all individuals: 9598
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
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variant carriers: 0

GenotypeQuality
all individuals: 308
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variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 450
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variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.72524118384477e-5
allele num: 36694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2890
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.98e0

VQSLOD
type: SiteQuality
SIO_000300: -2.443e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

DP
type: SiteQuality
SIO_000300: 8.49914e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
all individuals: 330
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
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variant carriers: 0

GenotypeQuality
all individuals: 201
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variant carriers: 0

GenotypeQuality
all individuals: 186
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variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11664
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.721435316336166e-4
allele num: 4236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.724e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 8.07296e5

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5026
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variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33077
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
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GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.914975105323631e-4
allele num: 5222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.978715771852206e-5
allele num: 33452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 3.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.02087e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
all individuals: 5609
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 382
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GenotypeQuality
all individuals: 2531
bin: 2.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 344
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GenotypeQuality
all individuals: 7142
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.076142131979696e-4
allele num: 3940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.152823920265781e-4
allele num: 2408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 7.83164e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 6.37e0

GenotypeQuality
all individuals: 1558
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 381
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variant carriers: 0

GenotypeQuality
all individuals: 5745
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GenotypeQuality
all individuals: 7125
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GenotypeQuality
all individuals: 570
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variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.177225646565419e-5
allele num: 31474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.764602082230457e-4
allele num: 11334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

FS
type: SiteQuality
SIO_000300: 1.847e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.48e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 7.77743e5

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
all individuals: 324
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

FS
type: SiteQuality
SIO_000300: 3.614e0

DP
type: SiteQuality
SIO_000300: 7.72775e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.109e1

GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6604
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5012
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 9.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 7.53029e5

GenotypeQuality
all individuals: 7611
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27422
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.033980582524272e-4
allele num: 3296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.02e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

FS
type: SiteQuality
SIO_000300: 3.136e0

VQSLOD
type: SiteQuality
SIO_000300: -1.849e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

DP
type: SiteQuality
SIO_000300: 7.28865e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

GenotypeQuality
all individuals: 451
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33506
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.261578604044357e-4
allele num: 3066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 7.11044e5

QD
type: SiteQuality
SIO_000300: 1.399e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10637
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.236211132762857e-5
allele num: 23606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.18e0

DP
type: SiteQuality
SIO_000300: 6.85573e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.27e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.41e0

VQSLOD
type: SiteQuality
SIO_000300: -9.153e-1

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5138
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 959
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4082
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.071e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 3.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.63e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 6.61327e5

GenotypeQuality
all individuals: 892
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

FS
type: SiteQuality
SIO_000300: 3.522e0

DP
type: SiteQuality
SIO_000300: 6.49357e5

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.13e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.353e0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.065870816457045e-4
allele num: 9382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2016
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 5.643e0

DP
type: SiteQuality
SIO_000300: 6.07744e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.978e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.66e-2

QD
type: SiteQuality
SIO_000300: 2.086e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 20426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.130870381966186e-4
allele num: 3194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.559e-1

FS
type: SiteQuality
SIO_000300: 9.890000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.36e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.67203e5

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1387
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.219174126479931e-5
allele num: 13852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.823e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.63e-2

FS
type: SiteQuality
SIO_000300: 3.696e0

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 5.54307e5

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeQuality
all individuals: 362
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1430
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3054
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 462
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8750
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 13606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.66e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 7.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 8.896797153024912e-5
allele num: 11240
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1074
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1016
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.732e0

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.854e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.10094e5

MQRankSum
type: SiteQuality
SIO_000300: -1.328e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1050
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 976
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.61e-2

FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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MQ
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VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 9.369999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -3.61e-1

MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 4.87531e5

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.256913021618904e-4
allele num: 7956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.06e1

FS
type: SiteQuality
SIO_000300: 4.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.932e0

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 4.1817e5

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 182
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.256913021618904e-4
allele num: 7956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 4.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.932e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.79e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.06e1

DP
type: SiteQuality
SIO_000300: 4.1817e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
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South Asian
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.290000000000001e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 634
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.350986219940557e-4
allele num: 7402
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 7952
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
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QD
type: SiteQuality
SIO_000300: 1.198e1

BaseQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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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: 19

Latino
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allele frequency: 4.694835680751174e-3
allele num: 426
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African
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allele frequency: 8.936550491510277e-4
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European (Finnish)
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allele frequency: 0.0e0
allele num: 50
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East Asian
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allele frequency: 0.0e0
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Other
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allele num: 182
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European (Non-Finnish)
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allele count: 70
allele frequency: 9.594298245614035e-3
allele num: 7296
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South Asian
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allele count: 22
allele frequency: 2.767991947659789e-3
allele num: 7948
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 628
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 7296
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Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 182
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South Asian
type: Population
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BaseQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 182
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East Asian
type: Population
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South Asian
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allele num: 7938
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European (Finnish)
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allele count: 0
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African
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allele frequency: 6.767586821015138e-2
allele num: 2246
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Latino
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allele frequency: 1.201923076923077e-2
allele num: 416
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European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.65e-2

DP
type: SiteQuality
SIO_000300: 4.1128e5

GenotypeQuality
all individuals: 543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.259763164525069e-4
allele num: 7938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 4.07587e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.539999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 3.285e0

VQSLOD
type: SiteQuality
SIO_000300: -1.947e0

GenotypeQuality
all individuals: 619
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581277672359266e-5
allele num: 63240
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8822
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.987e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.715056e6

FS
type: SiteQuality
SIO_000300: 1.021e0

QD
type: SiteQuality
SIO_000300: 1.75e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
all individuals: 1227
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63234
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: 8510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8814
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.127450980392157e-5
allele num: 16320
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.484e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 1.715816e6

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 129
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8814
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.127450980392157e-5
allele num: 16320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.484e1

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

DP
type: SiteQuality
SIO_000300: 1.715816e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8814
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.525264394829612e-4
allele num: 8510
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 1.716026e6

QD
type: SiteQuality
SIO_000300: 1.476e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 2965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581477732793522e-5
allele num: 63232
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: 8512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.255e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 1.2612e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 2.274e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

DP
type: SiteQuality
SIO_000300: 1.715783e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2964
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3053
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.897953373612122e-4
allele num: 63226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.133e0

QD
type: SiteQuality
SIO_000300: 1.18e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.71609e6

GenotypeQuality
all individuals: 184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 724
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.131733816206428e-4
allele num: 8836
num of homozygotes: 0

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

South Asian
type: Population
allele count: 31
allele frequency: 1.90020840995464e-3
allele num: 16314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 1.127e0

MQ
type: SiteQuality
SIO_000300: 6.02e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.715429e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
all individuals: 37183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.26090888537192e-4
allele num: 8846
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 2.517e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.714124e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.023e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.135e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
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: 6602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 1.71304e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 6.45e0

MQRankSum
type: SiteQuality
SIO_000300: 6.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 1189
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9479
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581627811343435e-5
allele num: 63226
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.712832e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.85e-1

FS
type: SiteQuality
SIO_000300: 2.908e0

VQSLOD
type: SiteQuality
SIO_000300: 7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37047
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3036
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.741258741258741e-5
allele num: 11440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63216
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.425e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

DP
type: SiteQuality
SIO_000300: 1.708031e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.293e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.4e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 584
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2935
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.586445410413428e-5
allele num: 63034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.13e-1

FS
type: SiteQuality
SIO_000300: 3.696e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.685327e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

QD
type: SiteQuality
SIO_000300: 1.256e1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 1468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.847745750184775e-4
allele num: 16236
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.137656427758817e-4
allele num: 8790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62596
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.662594e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.167e1

GenotypeQuality
all individuals: 639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179523472517103e-4
allele num: 8478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.759662144868185e-4
allele num: 62512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.54320987654321e-4
allele num: 6480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

DP
type: SiteQuality
SIO_000300: 1.658439e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

FS
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

GenotypeQuality
all individuals: 8579
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2720
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35323
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.799078576913232e-5
allele num: 62512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 1.295e1

FS
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

DP
type: SiteQuality
SIO_000300: 1.658439e6

GenotypeQuality
all individuals: 296
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.463497398442297e-5
allele num: 61886
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187084520417854e-4
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

FS
type: SiteQuality
SIO_000300: 1.665e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.645589e6

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1413
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 3822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2460
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 8

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 1

Latino
type: Population
allele count: 10
allele frequency: 8.928571428571428e-4
allele num: 11200
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.50140056022409e-4
allele num: 8568
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.935422602089269e-4
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.066365575210137e-3
allele num: 15942
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: 5
allele frequency: 7.785736530675802e-4
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.65556022363701e-4
allele num: 61886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.665e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.645589e6

QD
type: SiteQuality
SIO_000300: 6.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

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: 6422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.272738677706687e-5
allele num: 15942
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 1.665e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 1.645589e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 6.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 9.75e1
variant carriers: 7

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

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

Latino
type: Population
allele count: 7
allele frequency: 6.25e-4
allele num: 11200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61886
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 6.32e0

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 1.665e0

DP
type: SiteQuality
SIO_000300: 1.645589e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.916e1

GenotypeQuality
all individuals: 670
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2460
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61886
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.374169040835708e-4
allele num: 8424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 1.665e0

DP
type: SiteQuality
SIO_000300: 1.645589e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 6.32e0

GenotypeQuality
all individuals: 944
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
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: 15942
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.262224089454804e-4
allele num: 61886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.665e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.645589e6

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

QD
type: SiteQuality
SIO_000300: 6.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeQuality
all individuals: 139
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32948
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.400409626216078e-5
allele num: 15624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59934
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

QD
type: SiteQuality
SIO_000300: 7.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.377999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.574942e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.32e-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
all individuals: 242
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GenotypeQuality
all individuals: 12172
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.527805864509606e-4
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56868
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.538e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.576e0

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

QD
type: SiteQuality
SIO_000300: 1.426e1

DP
type: SiteQuality
SIO_000300: 1.36077e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1088
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 241
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variant carriers: 0

GenotypeQuality
all individuals: 505
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.729475100942126e-5
allele num: 14860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.085e0

DP
type: SiteQuality
SIO_000300: 1.267034e6

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 1771
bin: 2.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.87757909215956e-5
allele num: 14540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8924
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

QD
type: SiteQuality
SIO_000300: 1.732e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.518e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.184366e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

GenotypeQuality
all individuals: 600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51618
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.926167059149467e-5
allele num: 14438
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

QD
type: SiteQuality
SIO_000300: 1.776e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

FS
type: SiteQuality
SIO_000300: 1.1352e1

DP
type: SiteQuality
SIO_000300: 1.157514e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

VQSLOD
type: SiteQuality
SIO_000300: -1.493e0

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: 17

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14288
num of homozygotes: 0

African
type: Population
allele count: 16
allele frequency: 2.260525572195536e-3
allele num: 7078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50522
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Latino
type: Population
allele count: 1
allele frequency: 1.171783454417624e-4
allele num: 8534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.128242e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

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

East Asian
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14288
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5344
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.958671469854717e-5
allele num: 50522
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.171783454417624e-4
allele num: 8534
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.128242e6

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
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South Asian
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allele frequency: 3.506311360448808e-4
allele num: 14260
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African
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allele frequency: 0.0e0
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Other
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.983654685392367e-5
allele num: 50412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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