http://identifiers.org/exac.variant/12-122691402-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691402
    reference: chr 12
allele count: 4
allele frequency: 3.324799680819231e-5
allele num: 120308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.345C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-841C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.529C>A
  hgvsp: ENSP00000444534.1:p.Arg177Ser
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.155C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.529C>A
  hgvsp: ENSP00000438840.1:p.Arg177Ser
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.604C>A
  hgvsp: ENSP00000319636.4:p.Arg202Ser
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg202Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-122691402-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691403
    reference: chr 12
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.155_156insA
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.529_530insA
  hgvsp: ENSP00000444534.1:p.Arg177GlnfsTer18
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-841_74-840insA
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.604_605insA
  hgvsp: ENSP00000319636.4:p.Arg202GlnfsTer18
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.529_530insA
  hgvsp: ENSP00000438840.1:p.Arg177GlnfsTer18
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.345_346insA
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg202GlnfsTer18
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-122691403-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691403
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691403
    reference: chr 12
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.530G>C
  hgvsp: ENSP00000438840.1:p.Arg177Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.156G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.346G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.530G>C
  hgvsp: ENSP00000444534.1:p.Arg177Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-840G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.605G>C
  hgvsp: ENSP00000319636.4:p.Arg202Pro
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg202Pro
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

12-122691404-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691404
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691404
    reference: chr 12
allele count: 12
allele frequency: 9.964956569397618e-5
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.347C>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.531C>G
  hgvsp: ENST00000546192.1:c.531C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.606C>G
  hgvsp: ENST00000324189.4:c.606C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-839C>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.157C>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.531C>G
  hgvsp: ENST00000535274.1:c.531C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg202Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

12-122691405-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691405
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691405
    reference: chr 12
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.348T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.532T>C
  hgvsp: ENSP00000444534.1:p.Trp178Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-838T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.158T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.607T>C
  hgvsp: ENSP00000319636.4:p.Trp203Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.532T>C
  hgvsp: ENSP00000438840.1:p.Trp178Arg
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp203Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-122691408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691408
    reference: chr 12
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.535G>A
  hgvsp: ENSP00000444534.1:p.Val179Met
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.535G>A
  hgvsp: ENSP00000438840.1:p.Val179Met
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.161G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-835G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.351G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.610G>A
  hgvsp: ENSP00000319636.4:p.Val204Met
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14928
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val204Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-122691417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691417
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691417
    reference: chr 12
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.360G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.544G>A
  hgvsp: ENSP00000444534.1:p.Ala182Thr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.544G>A
  hgvsp: ENSP00000438840.1:p.Ala182Thr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.619G>A
  hgvsp: ENSP00000319636.4:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.170G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-826G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14930
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala207Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-122691417-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691417
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691417
    reference: chr 12
allele count: 4
allele frequency: 3.316529583443884e-5
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.544G>C
  hgvsp: ENSP00000444534.1:p.Ala182Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.360G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.544G>C
  hgvsp: ENSP00000438840.1:p.Ala182Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.170G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.619G>C
  hgvsp: ENSP00000319636.4:p.Ala207Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-826G>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14930
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala207Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-122691421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691421
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691421
    reference: chr 12
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.623G>C
  hgvsp: ENSP00000319636.4:p.Cys208Ser
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.364G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.174G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-822G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.548G>C
  hgvsp: ENSP00000444534.1:p.Cys183Ser
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.548G>C
  hgvsp: ENSP00000438840.1:p.Cys183Ser
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys208Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-122691421-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691421
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691422
    reference: chr 12
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-817dupC
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.553dupC
  hgvsp: ENSP00000444534.1:p.Gln185ProfsTer10
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.553dupC
  hgvsp: ENSP00000438840.1:p.Gln185ProfsTer10
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.628dupC
  hgvsp: ENSP00000319636.4:p.Gln210ProfsTer10
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.179dupC
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.369dupC
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14931
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln210ProfsTer10
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-122691422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691422
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691422
    reference: chr 12
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-821C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.175C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.624C>T
  hgvsp: ENST00000324189.4:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.549C>T
  hgvsp: ENST00000546192.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.549C>T
  hgvsp: ENST00000535274.1:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.365C>T
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14931
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys208Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-122691427-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691427
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691427
    reference: chr 12
allele count: 1
allele frequency: 8.280339162692104e-6
allele num: 120768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.370A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.180A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.554A>G
  hgvsp: ENSP00000438840.1:p.Gln185Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-816A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.629A>G
  hgvsp: ENSP00000319636.4:p.Gln210Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.554A>G
  hgvsp: ENSP00000444534.1:p.Gln185Arg
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln210Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-122691428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691428
    reference: chr 12
allele count: 630
allele frequency: 5.215749908931351e-3
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.371G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.555G>A
  hgvsp: ENST00000535274.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.555G>A
  hgvsp: ENST00000546192.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.630G>A
  hgvsp: ENST00000324189.4:c.630G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-815G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.181G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 14324
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 4.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15377
  bin: 9.75e1
  variant carriers: 629
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln210Gln
num of homozygotes: 1
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-122691432-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691432
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691431
    reference: chr 12
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.560delA
  hgvsp: ENSP00000444534.1:p.His187LeufsTer4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.186delA
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.376delA
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.560delA
  hgvsp: ENSP00000438840.1:p.His187LeufsTer4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.635delA
  hgvsp: ENSP00000319636.4:p.His212LeufsTer4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-810delA
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17649
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His212LeufsTer4
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CA
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

12-122691433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691433
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691433
    reference: chr 12
allele count: 3
allele frequency: 2.481800132362674e-5
allele num: 120880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.376A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.186A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-810A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.560A>G
  hgvsp: ENSP00000438840.1:p.His187Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.560A>G
  hgvsp: ENSP00000444534.1:p.His187Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.635A>G
  hgvsp: ENSP00000319636.4:p.His212Arg
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His212Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-122691436-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691436
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691436
    reference: chr 12
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.189T>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.563T>A
  hgvsp: ENSP00000438840.1:p.Phe188Tyr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.638T>A
  hgvsp: ENSP00000319636.4:p.Phe213Tyr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.563T>A
  hgvsp: ENSP00000444534.1:p.Phe188Tyr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-807T>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.379T>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe213Tyr
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: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-122691438-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691438
    reference: chr 12
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.381A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.565A>T
  hgvsp: ENSP00000444534.1:p.Met189Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.565A>T
  hgvsp: ENSP00000438840.1:p.Met189Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-805A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.191A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.640A>T
  hgvsp: ENSP00000319636.4:p.Met214Leu
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met214Leu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

12-122691443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691443
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691443
    reference: chr 12
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.645A>G
  hgvsp: ENST00000324189.4:c.645A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-800A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.570A>G
  hgvsp: ENST00000535274.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.570A>G
  hgvsp: ENST00000546192.1:c.570A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.196A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.386A>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu215Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-122691448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691448
    reference: chr 12
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.391G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.575G>A
  hgvsp: ENSP00000444534.1:p.Gly192Glu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.201G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.650G>A
  hgvsp: ENSP00000319636.4:p.Gly217Glu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-795G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.575G>A
  hgvsp: ENSP00000438840.1:p.Gly192Glu
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15209
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly217Glu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

12-122691453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691453
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691453
    reference: chr 12
allele count: 2
allele frequency: 1.652100645971353e-5
allele num: 121058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.580G>A
  hgvsp: ENSP00000438840.1:p.Asp194Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-790G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.655G>A
  hgvsp: ENSP00000319636.4:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.206G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.580G>A
  hgvsp: ENSP00000444534.1:p.Asp194Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.396G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11897
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5091
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp219Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-122691454-ACG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691452
    reference: chr 12
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.208_209delCG
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.398_399delCG
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.657_658delCG
  hgvsp: ENSP00000319636.4:p.Asp219GlufsTer38
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-788_74-787delCG
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.582_583delCG
  hgvsp: ENSP00000438840.1:p.Asp194GlufsTer38
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.582_583delCG
  hgvsp: ENSP00000444534.1:p.Asp194GlufsTer38
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15212
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp219GlufsTer38
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: ACG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

12-122691455-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691455
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691455
    reference: chr 12
allele count: 10
allele frequency: 8.260230295220631e-5
allele num: 121062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.582C>T
  hgvsp: ENST00000535274.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-788C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.208C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.398C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.582C>T
  hgvsp: ENST00000546192.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.657C>T
  hgvsp: ENST00000324189.4:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15219
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp219Asp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

12-122691456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691456
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691456
    reference: chr 12
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.399G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.209G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-787G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.583G>A
  hgvsp: ENSP00000438840.1:p.Asp195Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.583G>A
  hgvsp: ENSP00000444534.1:p.Asp195Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.658G>A
  hgvsp: ENSP00000319636.4:p.Asp220Asn
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15217
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17700
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp220Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

12-122691457-ATGTCTTTGTCCACGTCCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691457
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691439
    reference: chr 12
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsp: ENSP00000444534.1:p.Val196_Pro201del
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsp: ENSP00000319636.4:p.Val221_Pro226del
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsp: ENSP00000438840.1:p.Val196_Pro201del
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val221_Pro226del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: ATGTCTTTGTCCACGTCCC
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

12-122691465-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691465
    reference: chr 12
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.218G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.592G>C
  hgvsp: ENSP00000444534.1:p.Val198Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-778G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.667G>C
  hgvsp: ENSP00000319636.4:p.Val223Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.592G>C
  hgvsp: ENSP00000438840.1:p.Val198Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.408G>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15216
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val223Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-122691468-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691468
    reference: chr 12
allele count: 83
allele frequency: 6.853273883246636e-4
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-775C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.411C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.595C>A
  hgvsp: ENSP00000438840.1:p.His199Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.670C>A
  hgvsp: ENSP00000319636.4:p.His224Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.595C>A
  hgvsp: ENSP00000444534.1:p.His199Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.221C>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14516
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15290
  bin: 9.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5092
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4221
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His224Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/12-122691470-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691470
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691470
    reference: chr 12
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.672C>A
  hgvsp: ENSP00000319636.4:p.His224Gln
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.413C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.597C>A
  hgvsp: ENSP00000438840.1:p.His199Gln
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.223C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.597C>A
  hgvsp: ENSP00000444534.1:p.His199Gln
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-773C>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His224Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-122691470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691470
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691470
    reference: chr 12
allele count: 2
allele frequency: 1.651364026686043e-5
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-773C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.597C>T
  hgvsp: ENST00000535274.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.223C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.597C>T
  hgvsp: ENST00000546192.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.672C>T
  hgvsp: ENST00000324189.4:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.413C>T
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His224His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-122691471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691471
    reference: chr 12
allele count: 5
allele frequency: 4.127932896322837e-5
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.673G>A
  hgvsp: ENSP00000319636.4:p.Val225Ile
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.414G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.598G>A
  hgvsp: ENSP00000438840.1:p.Val200Ile
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.598G>A
  hgvsp: ENSP00000444534.1:p.Val200Ile
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.224G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-772G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7207
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val225Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

12-122691471-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691471
    reference: chr 12
allele count: 3
allele frequency: 2.476759737793703e-5
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.598G>C
  hgvsp: ENSP00000444534.1:p.Val200Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.673G>C
  hgvsp: ENSP00000319636.4:p.Val225Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.224G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.598G>C
  hgvsp: ENSP00000438840.1:p.Val200Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-772G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.414G>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val225Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-122691474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691474
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691474
    reference: chr 12
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.601C>T
  hgvsp: ENSP00000444534.1:p.Pro201Ser
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.417C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-769C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.601C>T
  hgvsp: ENSP00000438840.1:p.Pro201Ser
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.227C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.676C>T
  hgvsp: ENSP00000319636.4:p.Pro226Ser
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro226Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-122691474-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691474
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691474
    reference: chr 12
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.227C>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.601C>G
  hgvsp: ENSP00000444534.1:p.Pro201Ala
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.676C>G
  hgvsp: ENSP00000319636.4:p.Pro226Ala
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.417C>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.601C>G
  hgvsp: ENSP00000438840.1:p.Pro201Ala
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-769C>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2604
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro226Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-122691479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691479
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691479
    reference: chr 12
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.606C>T
  hgvsp: ENST00000535274.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.422C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.681C>T
  hgvsp: ENST00000324189.4:c.681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.606C>T
  hgvsp: ENST00000546192.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.232C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-764C>T
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14527
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5111
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn227Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

12-122691480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691480
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691480
    reference: chr 12
allele count: 10
allele frequency: 8.255047961828659e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.607G>A
  hgvsp: ENSP00000438840.1:p.Val203Met
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.682G>A
  hgvsp: ENSP00000319636.4:p.Val228Met
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-763G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.233G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.607G>A
  hgvsp: ENSP00000444534.1:p.Val203Met
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.423G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15289
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val228Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-122691482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691482
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691482
    reference: chr 12
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.609G>A
  hgvsp: ENST00000535274.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.425G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.609G>A
  hgvsp: ENST00000546192.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.684G>A
  hgvsp: ENST00000324189.4:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.235G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-761G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7217
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val228Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-122691484-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691485
    reference: chr 12
allele count: 30
allele frequency: 2.476228209191759e-4
allele num: 121152
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.612dupA
  hgvsp: ENSP00000444534.1:p.Glu205ArgfsTer28
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.687dupA
  hgvsp: ENSP00000319636.4:p.Glu230ArgfsTer28
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.238dupA
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.612dupA
  hgvsp: ENSP00000438840.1:p.Glu205ArgfsTer28
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-758dupA
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.428dupA
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13112
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu230ArgfsTer28
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-122691485-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691485
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691485
    reference: chr 12
allele count: 2
allele frequency: 1.651636772041093e-5
allele num: 121092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-758A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.612A>G
  hgvsp: ENST00000546192.1:c.612A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.428A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.687A>G
  hgvsp: ENST00000324189.4:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.612A>G
  hgvsp: ENST00000535274.1:c.612A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.238A>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15286
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu229Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-122691486-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691486
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691486
    reference: chr 12
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.613G>T
  hgvsp: ENSP00000438840.1:p.Glu205Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.239G>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-757G>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.688G>T
  hgvsp: ENSP00000319636.4:p.Glu230Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.613G>T
  hgvsp: ENSP00000444534.1:p.Glu205Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.429G>T
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu230Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

12-122691487-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691487
    reference: chr 12
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.614A>T
  hgvsp: ENSP00000444534.1:p.Glu205Val
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.689A>T
  hgvsp: ENSP00000319636.4:p.Glu230Val
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.430A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.240A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-756A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.614A>T
  hgvsp: ENSP00000438840.1:p.Glu205Val
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu230Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

12-122691493-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691493
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691493
    reference: chr 12
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.620T>G
  hgvsp: ENSP00000438840.1:p.Leu207Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.436T>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.620T>G
  hgvsp: ENSP00000444534.1:p.Leu207Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.695T>G
  hgvsp: ENSP00000319636.4:p.Leu232Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.246T>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-750T>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu232Arg
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

12-122691497-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691497
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691497
    reference: chr 12
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.250T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.624T>C
  hgvsp: ENST00000546192.1:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.699T>C
  hgvsp: ENST00000324189.4:c.699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-746T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.624T>C
  hgvsp: ENST00000535274.1:c.624T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.440T>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15317
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp233Asp
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

12-122691498-GGCTGGGACCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691487
    reference: chr 12
allele count: 15
allele frequency: 1.237848454339897e-4
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsp: ENSP00000319636.4:p.Trp235ProfsTer19
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsp: ENSP00000438840.1:p.Trp210ProfsTer19
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsp: ENSP00000444534.1:p.Trp210ProfsTer19
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp235ProfsTer19
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: GGCTGGGACCCA
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

12-122691501-TGGGACCCAGCCCAGGACCTCCTGGTGGGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691501
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691472
    reference: chr 12
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsp: ENSP00000319636.4:p.Trp235Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsp: ENSP00000444534.1:p.Trp210Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsp: ENSP00000438840.1:p.Trp210Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11950
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2609
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Trp235Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: TGGGACCCAGCCCAGGACCTCCTGGTGGGA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-122691506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691506
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691506
    reference: chr 12
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-737C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.633C>T
  hgvsp: ENST00000535274.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.708C>T
  hgvsp: ENST00000324189.4:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.259C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.633C>T
  hgvsp: ENST00000546192.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.449C>T
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp236Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-122691510-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691510
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691510
    reference: chr 12
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.637G>C
  hgvsp: ENSP00000444534.1:p.Ala213Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.263G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.637G>C
  hgvsp: ENSP00000438840.1:p.Ala213Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.712G>C
  hgvsp: ENSP00000319636.4:p.Ala238Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.453G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-733G>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17467
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala238Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-122691514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691514
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691514
    reference: chr 12
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.457A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.716A>G
  hgvsp: ENSP00000319636.4:p.Gln239Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.641A>G
  hgvsp: ENSP00000438840.1:p.Gln214Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.641A>G
  hgvsp: ENSP00000444534.1:p.Gln214Arg
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-729A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.267A>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17447
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln239Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

12-122691515-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691515
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691515
    reference: chr 12
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.642G>C
  hgvsp: ENSP00000438840.1:p.Gln214His
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.717G>C
  hgvsp: ENSP00000319636.4:p.Gln239His
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.642G>C
  hgvsp: ENSP00000444534.1:p.Gln214His
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.458G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.268G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-728G>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17363
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln239His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-122691516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691516
    reference: chr 12
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.643G>A
  hgvsp: ENSP00000444534.1:p.Asp215Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-727G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.718G>A
  hgvsp: ENSP00000319636.4:p.Asp240Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.269G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.643G>A
  hgvsp: ENSP00000438840.1:p.Asp215Asn
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.459G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp240Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

12-122691527-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691527
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691527
    reference: chr 12
allele count: 7
allele frequency: 5.777770440926424e-5
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.654G>C
  hgvsp: ENST00000535274.1:c.654G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.280G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.654G>C
  hgvsp: ENST00000546192.1:c.654G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.729G>C
  hgvsp: ENST00000324189.4:c.729G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.470G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-716G>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val243Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

12-122691532-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691532
    reference: chr 12
allele count: 38
allele frequency: 3.136711075891899e-4
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.475A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.659A>T
  hgvsp: ENSP00000444534.1:p.Asp220Val
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.734A>T
  hgvsp: ENSP00000319636.4:p.Asp245Val
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.285A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-711A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.659A>T
  hgvsp: ENSP00000438840.1:p.Asp220Val
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12769
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp245Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

12-122691533-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691533
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691533
    reference: chr 12
allele count: 9
allele frequency: 7.428807263722657e-5
allele num: 121150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.660T>C
  hgvsp: ENST00000535274.1:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.660T>C
  hgvsp: ENST00000546192.1:c.660T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.286T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.735T>C
  hgvsp: ENST00000324189.4:c.735T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-710T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.476T>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12022
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp245Asp
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-122691539-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691539
    reference: chr 12
allele count: 2
allele frequency: 1.651091371396493e-5
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.482C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.292C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-704C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.741C>A
  hgvsp: ENST00000324189.4:c.741C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.666C>A
  hgvsp: ENST00000546192.1:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.666C>A
  hgvsp: ENST00000535274.1:c.666C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile247Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-122691539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691539
    reference: chr 12
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.482C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.666C>T
  hgvsp: ENST00000546192.1:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.666C>T
  hgvsp: ENST00000535274.1:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.292C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-704C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.741C>T
  hgvsp: ENST00000324189.4:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile247Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-122691540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691540
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691540
    reference: chr 12
allele count: 6
allele frequency: 4.953764861294584e-5
allele num: 121120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.483C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.667C>T
  hgvsp: ENSP00000444534.1:p.Arg223Cys
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.293C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.667C>T
  hgvsp: ENSP00000438840.1:p.Arg223Cys
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-703C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.742C>T
  hgvsp: ENSP00000319636.4:p.Arg248Cys
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg248Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-122691541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691541
    reference: chr 12
allele count: 366
allele frequency: 3.021896363816506e-3
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.294G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-702G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.668G>A
  hgvsp: ENSP00000438840.1:p.Arg223His
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.668G>A
  hgvsp: ENSP00000444534.1:p.Arg223His
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.743G>A
  hgvsp: ENSP00000319636.4:p.Arg248His
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.484G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11996
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7169
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15658
  bin: 9.75e1
  variant carriers: 360
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg248His
num of homozygotes: 3
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

12-122691541-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691541
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691541
    reference: chr 12
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.668G>C
  hgvsp: ENSP00000444534.1:p.Arg223Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.484G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-702G>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.743G>C
  hgvsp: ENSP00000319636.4:p.Arg248Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.668G>C
  hgvsp: ENSP00000438840.1:p.Arg223Pro
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.294G>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg248Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-122691556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691556
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691556
    reference: chr 12
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.309A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.758A>G
  hgvsp: ENSP00000319636.4:p.Asn253Ser
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.683A>G
  hgvsp: ENSP00000444534.1:p.Asn228Ser
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-687A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.499A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.683A>G
  hgvsp: ENSP00000438840.1:p.Asn228Ser
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn253Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

12-122691558-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691558
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691558
    reference: chr 12
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.685A>G
  hgvsp: ENSP00000438840.1:p.Arg229Gly
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.760A>G
  hgvsp: ENSP00000319636.4:p.Arg254Gly
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.311A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.685A>G
  hgvsp: ENSP00000444534.1:p.Arg229Gly
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.501A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-685A>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15608
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5141
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg254Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ

12-122691559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691559
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691559
    reference: chr 12
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.312G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-684G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.686G>A
  hgvsp: ENSP00000438840.1:p.Arg229Lys
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.761G>A
  hgvsp: ENSP00000319636.4:p.Arg254Lys
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.686G>A
  hgvsp: ENSP00000444534.1:p.Arg229Lys
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.502G>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg254Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/12-122691568-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691568
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691568
    reference: chr 12
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.695A>C
  hgvsp: ENSP00000438840.1:p.Lys232Thr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.695A>C
  hgvsp: ENSP00000444534.1:p.Lys232Thr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.321A>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.770A>C
  hgvsp: ENSP00000319636.4:p.Lys257Thr
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.511A>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-675A>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15610
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys257Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-122691570-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691570
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691570
    reference: chr 12
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.323G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-673G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.697G>A
  hgvsp: ENSP00000444534.1:p.Val233Ile
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.697G>A
  hgvsp: ENSP00000438840.1:p.Val233Ile
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.513G>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.772G>A
  hgvsp: ENSP00000319636.4:p.Val258Ile
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val258Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-122691572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691572
    reference: chr 12
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-671C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.699C>T
  hgvsp: ENST00000546192.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.774C>T
  hgvsp: ENST00000324189.4:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.699C>T
  hgvsp: ENST00000535274.1:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.325C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.515C>T
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12028
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val258Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-122691573-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691573
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691573
    reference: chr 12
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-670A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.700A>G
  hgvsp: ENSP00000444534.1:p.Lys234Glu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.700A>G
  hgvsp: ENSP00000438840.1:p.Lys234Glu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.775A>G
  hgvsp: ENSP00000319636.4:p.Lys259Glu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.516A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.326A>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys259Glu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

12-122691578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691578
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691578
    reference: chr 12
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.705C>T
  hgvsp: ENST00000546192.1:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.521C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-665C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.780C>T
  hgvsp: ENST00000324189.4:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.331C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.705C>T
  hgvsp: ENST00000535274.1:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15613
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Tyr260Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

12-122691579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691579
    reference: chr 12
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-664T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.706T>C
  hgvsp: ENSP00000444534.1:p.Phe236Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.522T>C
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.706T>C
  hgvsp: ENSP00000438840.1:p.Phe236Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.781T>C
  hgvsp: ENSP00000319636.4:p.Phe261Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.332T>C
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Phe261Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-122691580-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691580
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691580
    reference: chr 12
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.782T>G
  hgvsp: ENSP00000319636.4:p.Phe261Cys
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.333T>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.707T>G
  hgvsp: ENSP00000444534.1:p.Phe236Cys
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.523T>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-663T>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.707T>G
  hgvsp: ENSP00000438840.1:p.Phe236Cys
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14134
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe261Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-122691586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691586
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691586
    reference: chr 12
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-657C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.788C>T
  hgvsp: ENSP00000319636.4:p.Pro263Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.713C>T
  hgvsp: ENSP00000444534.1:p.Pro238Leu
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.339C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.529C>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.713C>T
  hgvsp: ENSP00000438840.1:p.Pro238Leu
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14150
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro263Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

12-122691590-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691590
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691590
    reference: chr 12
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-653C>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.717C>G
  hgvsp: ENST00000546192.1:c.717C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.717C>G
  hgvsp: ENST00000535274.1:c.717C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.792C>G
  hgvsp: ENST00000324189.4:c.792C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.343C>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.533C>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15623
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro264Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-122691592-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691592
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691592
    reference: chr 12
allele count: 4
allele frequency: 3.305184181388508e-5
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.719C>A
  hgvsp: ENSP00000444534.1:p.Ser240Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.719C>A
  hgvsp: ENSP00000438840.1:p.Ser240Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.345C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-651C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.794C>A
  hgvsp: ENSP00000319636.4:p.Ser265Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.535C>A
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser265Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-122691593-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691593
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691593
    reference: chr 12
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.795A>T
  hgvsp: ENST00000324189.4:c.795A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.720A>T
  hgvsp: ENST00000546192.1:c.720A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-650A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.720A>T
  hgvsp: ENST00000535274.1:c.720A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.536A>T
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.346A>T
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser265Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

12-122691594-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691594
    reference: chr 12
allele count: 6
allele frequency: 4.956793285197363e-5
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.537A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.721A>G
  hgvsp: ENSP00000444534.1:p.Met241Val
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.721A>G
  hgvsp: ENSP00000438840.1:p.Met241Val
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.796A>G
  hgvsp: ENSP00000319636.4:p.Met266Val
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.347A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-649A>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15631
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16033
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met266Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-122691599-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691599
    reference: chr 12
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.542C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-644C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.352C>A
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.801C>A
  hgvsp: ENSP00000319636.4:p.Tyr267Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.726C>A
  hgvsp: ENSP00000444534.1:p.Tyr242Ter
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.726C>A
  hgvsp: ENSP00000438840.1:p.Tyr242Ter
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr267Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-122691600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122691600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 122691600
    reference: chr 12
allele count: 11
allele frequency: 9.088655705197059e-5
allele num: 121030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000537991
  gene symbol: B3GNT4
  hgvsc: ENST00000537991.1:n.543A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000438840
  ensembl transcript: ENST00000546192
  gene symbol: B3GNT4
  hgvsc: ENST00000546192.1:c.727A>G
  hgvsp: ENSP00000438840.1:p.Arg243Gly
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000319636
  ensembl transcript: ENST00000324189
  gene symbol: B3GNT4
  hgvsc: ENST00000324189.4:c.802A>G
  hgvsp: ENSP00000319636.4:p.Arg268Gly
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000176383
  ensembl protein: ENSP00000444534
  ensembl transcript: ENST00000535274
  gene symbol: B3GNT4
  hgvsc: ENST00000535274.1:c.727A>G
  hgvsp: ENSP00000444534.1:p.Arg243Gly
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000545141
  gene symbol: B3GNT4
  hgvsc: ENST00000545141.1:n.74-643A>G
  variant of: http://identifiers.org/hgnc/15683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000176383
  ensembl transcript: ENST00000538257
  gene symbol: B3GNT4
  hgvsc: ENST00000538257.1:n.353A>G
  variant of: http://identifiers.org/hgnc/15683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg268Gly
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14920
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 16900
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4457
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.636068613815484e-4
allele num: 8628
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
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: -5.0e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 9.84e0

DP
type: SiteQuality
SIO_000300: 1.948403e6

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

FS
type: SiteQuality
SIO_000300: 3.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16900
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
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SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.948403e6

BaseQRankSum
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SIO_000300: 8.33e-1

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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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66106
num of homozygotes: 0

East Asian
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allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.284e0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.645e1

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
all individuals: 14926
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variant carriers: 12

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 12
allele frequency: 1.814882032667876e-4
allele num: 66120
num of homozygotes: 0

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

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -1.12e0

QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 1.672e0

MQRankSum
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 1.950711e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
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allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10252
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11560
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.951992e6

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.401e1

VQSLOD
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.64e-1

GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
type: Population
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66206
num of homozygotes: 0

African
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East Asian
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Other
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Finnish)
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allele count: 4
allele frequency: 6.079027355623101e-4
allele num: 6580
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

South Asian
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European (Finnish)
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Other
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African
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allele num: 10282
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66252
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FS
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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allele num: 11560
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Other
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African
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European (Finnish)
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MQ
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 9.725734292939116e-5
allele num: 10282
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European (Non-Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.911e0

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

DP
type: SiteQuality
SIO_000300: 1.957644e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

QD
type: SiteQuality
SIO_000300: 1.775e1

GenotypeQuality
all individuals: 7185
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14935
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3383
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.958916e6

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

FS
type: SiteQuality
SIO_000300: 7.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 3345
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2583
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5040
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4154
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 26
allele frequency: 2.525252525252525e-3
allele num: 10296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.11854103343465e-4
allele num: 6580
num of homozygotes: 0

Latino
type: Population
allele count: 29
allele frequency: 2.508216571527418e-3
allele num: 11562
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 535
allele frequency: 8.066218375900854e-3
allele num: 66326
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.333333333333334e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 31
allele frequency: 1.88015526443474e-3
allele num: 16488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.983393e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
all individuals: 4184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15202
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4461
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

QD
type: SiteQuality
SIO_000300: 1.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.064e0

DP
type: SiteQuality
SIO_000300: 1.972569e6

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

MQ
type: SiteQuality
SIO_000300: 6.024e1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15203
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7167
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51997830410414e-5
allele num: 66372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 7.517e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.97284e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.41e-1

GenotypeQuality
all individuals: 4467
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15203
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7184
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.361e0

DP
type: SiteQuality
SIO_000300: 1.973315e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.051e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.005e1

QD
type: SiteQuality
SIO_000300: 2.115e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.005e0

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

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5075
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4465
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 3.247e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

MQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.973803e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e0

GenotypeQuality
all individuals: 15207
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2596
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4466
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17741
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.192e0

QD
type: SiteQuality
SIO_000300: 1.359e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.97484e6

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

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

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

GenotypeQuality
all individuals: 4468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5083
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.975698e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.689e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
type: SiteQuality
SIO_000300: 1.6905e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -2.431e0

GenotypeQuality
all individuals: 3363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15211
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4208
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.93050193050193e-4
allele num: 10360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 3.021e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.976138e6

MQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

QD
type: SiteQuality
SIO_000300: 1.177e1

GenotypeQuality
all individuals: 2599
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7213
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 5.448e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.976173e6

MQ
type: SiteQuality
SIO_000300: 5.891e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

QD
type: SiteQuality
SIO_000300: 1.154e1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7205
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5092
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4474
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052631578947368e-4
allele num: 66500
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

DP
type: SiteQuality
SIO_000300: 1.976726e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.267e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5093
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7214
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.105e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 6.32e0

FS
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.368e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.976859e6

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7224
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5093
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.656e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.325e0

DP
type: SiteQuality
SIO_000300: 1.976814e6

QD
type: SiteQuality
SIO_000300: 8.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.881e0

MQRankSum
type: SiteQuality
SIO_000300: -2.381e0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4227
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.977528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

GenotypeQuality
all individuals: 245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4461
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 80
allele frequency: 6.914433880726016e-3
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005259203606311e-5
allele num: 66550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.980003e6

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.362e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.492e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7204
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15275
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 1.448e1

MQ
type: SiteQuality
SIO_000300: 5.892e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 1.979506e6

FS
type: SiteQuality
SIO_000300: 1.278e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

GenotypeQuality
all individuals: 4462
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5097
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15275
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4228
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3372
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.892e1

FS
type: SiteQuality
SIO_000300: 1.278e0

DP
type: SiteQuality
SIO_000300: 1.979506e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

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

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15277
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2602
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.009073701288946e-5
allele num: 66566
num of homozygotes: 0

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

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

DP
type: SiteQuality
SIO_000300: 1.980069e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
all individuals: 3373
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15277
bin: 9.75e1
variant carriers: 3

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.506805275966709e-5
allele num: 66566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 1.980069e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7216
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.511e0

DP
type: SiteQuality
SIO_000300: 1.980187e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17596
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7216
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5104
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.19e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

DP
type: SiteQuality
SIO_000300: 1.980187e6

FS
type: SiteQuality
SIO_000300: 4.511e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.93050193050193e-4
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.078e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.980651e6

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 17617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

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

African
type: Population
allele count: 9
allele frequency: 8.688936088047886e-4
allele num: 10358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.26e1

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.980993e6

GenotypeQuality
all individuals: 17628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 8.75e1
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GenotypeQuality
all individuals: 15290
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.981151e6

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.859e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.925e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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GenotypeQuality
all individuals: 15316
bin: 9.75e1
variant carriers: 31

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.604794376520773e-4
allele num: 66578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.016e1

FS
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.981934e6

MQRankSum
type: SiteQuality
SIO_000300: 4.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.14e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17620
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.83e0

DP
type: SiteQuality
SIO_000300: 1.982095e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 17569
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.512e0

FS
type: SiteQuality
SIO_000300: 2.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.245e1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4245
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GenotypeQuality
all individuals: 17632
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.861e0

VQSLOD
type: SiteQuality
SIO_000300: -8.269e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.896000000000001e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.41e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.981941e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 219
bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.408e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.419e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.9827e6

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.147e0

MQRankSum
type: SiteQuality
SIO_000300: 2.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 17565
bin: 6.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.951776116265802e-4
allele num: 66606
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

Other
type: Population
allele count: 0
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

FS
type: SiteQuality
SIO_000300: 1.129e0

InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -5.713e0

DP
type: SiteQuality
SIO_000300: 1.983209e6

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

GenotypeQuality
all individuals: 4473
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.273e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

FS
type: SiteQuality
SIO_000300: 1.134e0

MQ
type: SiteQuality
SIO_000300: 5.515e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.312e0

DP
type: SiteQuality
SIO_000300: 1.982772e6

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5141
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2617
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17489
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.983329e6

QD
type: SiteQuality
SIO_000300: 1.063e1

MQ
type: SiteQuality
SIO_000300: 5.845e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 6.133e0

VQSLOD
type: SiteQuality
SIO_000300: -2.762e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.736e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3387
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15318
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2618
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 5.994e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.541e0

QD
type: SiteQuality
SIO_000300: 1.255e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

DP
type: SiteQuality
SIO_000300: 1.984118e6

GenotypeQuality
all individuals: 4477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15335
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.175e1

FS
type: SiteQuality
SIO_000300: 1.297e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 1.984362e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15336
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.984239e6

VQSLOD
type: SiteQuality
SIO_000300: -1.562e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

FS
type: SiteQuality
SIO_000300: 1.217e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 2.653e1

GenotypeQuality
all individuals: 236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4272
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4481
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15340
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.984407e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

FS
type: SiteQuality
SIO_000300: 1.333e0

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: 6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

GenotypeQuality
all individuals: 17318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15350
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.245511887433285e-4
allele num: 16488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.232e1

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.984308e6

FS
type: SiteQuality
SIO_000300: 3.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

GenotypeQuality
all individuals: 5157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 4477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15371
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7255
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.555388727065254e-4
allele num: 66602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.984426e6

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
all individuals: 3385
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15377
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 4272
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17162
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.595155709342561e-4
allele num: 11560
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.819741661846925e-4
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 2.477e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 1.984344e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

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

GenotypeQuality
all individuals: 15383
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.984128e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.133e0

FS
type: SiteQuality
SIO_000300: 1.612e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.173e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

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

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4479
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15383
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

FS
type: SiteQuality
SIO_000300: 1.612e0

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.133e0

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.984128e6

GenotypeQuality
all individuals: 2628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3386
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16948
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15385
bin: 9.75e1
variant carriers: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.508409418548775e-5
allele num: 66592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.984718e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 16591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 23
allele frequency: 2.660189683090446e-3
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.051366776809853e-4
allele num: 66580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

African
type: Population
allele count: 328
allele frequency: 3.161750530171583e-2
allele num: 10374
num of homozygotes: 3

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

Latino
type: Population
allele count: 7
allele frequency: 6.055363321799307e-4
allele num: 11560
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 1.998307e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
all individuals: 345
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3365
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15658
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4238
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variant carriers: 0

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

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

QD
type: SiteQuality
SIO_000300: 1.359e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.998307e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.46e-1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15607
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4469
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.994252e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

QD
type: SiteQuality
SIO_000300: 1.393e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

GenotypeQuality
all individuals: 4468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 291
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4264
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.315e0

DP
type: SiteQuality
SIO_000300: 1.992996e6

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.387e1

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 16230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2631
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15609
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 422
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4466
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.147e0

MQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

QD
type: SiteQuality
SIO_000300: 1.652e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.264e0

MQ
type: SiteQuality
SIO_000300: 5.727e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.752e0

DP
type: SiteQuality
SIO_000300: 1.993049e6

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3376
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4468
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.107243190423842e-5
allele num: 16374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

DP
type: SiteQuality
SIO_000300: 1.992172e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.381e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.925e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16113
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
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: 10386
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.928e0

FS
type: SiteQuality
SIO_000300: 2.296e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 9.76e0

DP
type: SiteQuality
SIO_000300: 1.991779e6

GenotypeQuality
all individuals: 5158
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4466
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7101
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.175e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

QD
type: SiteQuality
SIO_000300: 3.46e0

FS
type: SiteQuality
SIO_000300: 7.883e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.991589e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
all individuals: 4259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15613
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2636
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.991573e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 1.7219e1

VQSLOD
type: SiteQuality
SIO_000300: -2.365e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

VQSLOD
type: SiteQuality
SIO_000300: -7.542e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
SIO_000300: 1.991273e6

MQ
type: SiteQuality
SIO_000300: 5.856e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

FS
type: SiteQuality
SIO_000300: 1.346e0

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
all individuals: 271
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15613
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.056e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

QD
type: SiteQuality
SIO_000300: 1.609e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQ
type: SiteQuality
SIO_000300: 5.735e1

DP
type: SiteQuality
SIO_000300: 1.991246e6

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15922
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4478
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.11545988258317e-5
allele num: 16352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.474e0

FS
type: SiteQuality
SIO_000300: 6.455e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.538e0

DP
type: SiteQuality
SIO_000300: 1.991211e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
all individuals: 224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7131
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5187
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.128e0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

FS
type: SiteQuality
SIO_000300: 1.0401e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

DP
type: SiteQuality
SIO_000300: 1.992391e6

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

FS
type: SiteQuality
SIO_000300: 1.083e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.829e0

DP
type: SiteQuality
SIO_000300: 1.993575e6

MQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15628
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16009
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5195
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.45188181929631e-4
allele num: 16314
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 1.99412e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

QD
type: SiteQuality
SIO_000300: 1.093e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.674e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 259
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 16060
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variant carriers: 0

GenotypeQuality
all individuals: 15627
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 298
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

FS
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 1.994192e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

MQ
type: SiteQuality
SIO_000300: 5.822e1

QD
type: SiteQuality
SIO_000300: 1.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

GenotypeQuality
all individuals: 131
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 4305
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variant carriers: 0

GenotypeQuality
all individuals: 169
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.189413596263622e-4
allele num: 11562
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

DP
type: SiteQuality
SIO_000300: 1.994471e6

FS
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 15912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 256
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GenotypeQuality
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GenotypeQuality
all individuals: 5207
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variant carriers: 0

GenotypeQuality
all individuals: 4311
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variant carriers: 0

GenotypeQuality
all individuals: 284
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variant carriers: 0

GenotypeQuality
all individuals: 2644
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.663e-1

QD
type: SiteQuality
SIO_000300: 2.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

FS
type: SiteQuality
SIO_000300: 5.412e0

DP
type: SiteQuality
SIO_000300: 1.995344e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1