21-46685498-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685498
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685498
    reference: chr 21
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1189A>G
  hgvsp: ENSP00000339613.5:p.Arg397Gly
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1521A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.407A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.433A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*252A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1868A>G
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg397Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

21-46685507-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685507
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685507
    reference: chr 21
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1859C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.424C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.398C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1180C>A
  hgvsp: ENSP00000339613.5:p.His394Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1512C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*243C>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His394Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

21-46685511-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685511
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685511
    reference: chr 21
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1176G>C
  hgvsp: ENST00000349485.5:c.1176G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.420G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1855G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.394G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*239G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1508G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg392Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

21-46685512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685512
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685512
    reference: chr 21
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.419G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*238G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1854G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1507G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.393G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1175G>A
  hgvsp: ENSP00000339613.5:p.Arg392Gln
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg392Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

21-46685520-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685520
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685520
    reference: chr 21
allele count: 2
allele frequency: 1.660054117764239e-5
allele num: 120478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.385T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1167T>C
  hgvsp: ENST00000349485.5:c.1167T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1846T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*230T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1499T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.411T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe389Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/21-46685534-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685534
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685534
    reference: chr 21
allele count: 1
allele frequency: 8.347384764353328e-6
allele num: 119798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.371T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*216T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.397T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1485T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1153T>G
  hgvsp: ENSP00000339613.5:p.Ser385Ala
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1832T>G
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser385Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

21-46685535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685535
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685535
    reference: chr 21
allele count: 2
allele frequency: 1.669365474183263e-5
allele num: 119806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.370C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1831C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*215C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1484C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1152C>T
  hgvsp: ENST00000349485.5:c.1152C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.396C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr384Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

21-46685541-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685541
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685541
    reference: chr 21
allele count: 3
allele frequency: 2.512142019762184e-5
allele num: 119420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.390T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*209T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1825T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.364T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1146T>C
  hgvsp: ENST00000349485.5:c.1146T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1478T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11944
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile382Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-46685543-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685543
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685544
    reference: chr 21
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*206dupT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1475dupT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1822dupT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.387dupT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.361dupT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1143dupT
  hgvsp: ENSP00000339613.5:p.Ile382TyrfsTer14
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3779
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5232
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile382TyrfsTer14
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

21-46685549-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685549
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685549
    reference: chr 21
allele count: 9
allele frequency: 7.574227428802263e-5
allele num: 118824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*201T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1470T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.356T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1138T>C
  hgvsp: ENSP00000339613.5:p.Phe380Leu
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1817T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.382T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18983
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe380Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

21-46685550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685550
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685550
    reference: chr 21
allele count: 232
allele frequency: 1.957871995679179e-3
allele num: 118496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137G>A
  hgvsp: ENST00000349485.5:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1816G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18688
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1137G>A
num of homozygotes: 6
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

21-46685556-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685556
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685556
    reference: chr 21
allele count: 1
allele frequency: 8.52980313214371e-6
allele num: 117236
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-6T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355-6T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200-6T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469-6T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1810T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-6T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1137-6T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-46685560-A-ATCACAGAGGTTCCAGAGTCAGGGAGAACTGGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685560
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685593
    reference: chr 21
allele count: 0
allele frequency: 0.0e0
allele num: 110732
alternate allele: ATCACAGAGGTTCCAGAGTCAGGGAGAACTGGGG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25467
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

21-46685560-ATCACAGAGGTTCCAGAGTCAGGGAGAACTGGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685560
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685527
    reference: chr 21
allele count: 29841
allele frequency: 2.694884947440668e-1
allele num: 110732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 10981
  bin: 1.25e1
  variant carriers: 7072
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 1.75e1
  variant carriers: 7692
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 3.75e1
  variant carriers: 549
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 7.5e0
  variant carriers: 3306
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.5e0
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 13708
  bin: 2.75e1
  variant carriers: 2845
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 10746
  bin: 2.25e1
  variant carriers: 5453
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 3.25e1
  variant carriers: 1274
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 8.75e1
  variant carriers: 422
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 6.75e1
  variant carriers: 450
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 2.75e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 14406
  bin: 6.25e1
  variant carriers: 454
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 463
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 3.75e1
  variant carriers: 235
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.25e1
  variant carriers: 391
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 5.25e1
  variant carriers: 438
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 446
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 2.25e1
  variant carriers: 63
num of homozygotes: 4042
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: ATCACAGAGGTTCCAGAGTCAGGGAGAACTGGCG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

21-46685580-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685580
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685579
    reference: chr 21
allele count: 1
allele frequency: 1.754139769856862e-5
allele num: 57008
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1785delC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200-31delC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355-31delC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-31delC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-31delC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469-31delC
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8327
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: AG
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-46685584-AGAACTGGCGTCACAGAGGTTCCAGAGTCAGGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685584
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685552
    reference: chr 21
allele count: 1
allele frequency: 1.790702671728386e-5
allele num: 55844
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: AGAACTGGCGTCACAGAGGTTCCAGAGTCAGGG
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

21-46685591-G-GGGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685591
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685594
    reference: chr 21
allele count: 1
allele frequency: 1.855907353104933e-5
allele num: 53882
alternate allele: GGGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-42_381-41insACC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355-42_355-41insACC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1774_*1775insACC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200-42_*200-41insACC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469-42_1469-41insACC
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-42_1137-41insACC
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

21-46685592-C-CACAGAGGTTCCAGAGTCAGGGAGAACTGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685592
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685622
    reference: chr 21
allele count: 1
allele frequency: 1.25087561292905e-5
allele num: 79944
alternate allele: CACAGAGGTTCCAGAGTCAGGGAGAACTGGG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

21-46685592-C-CGTCACAGAGGTTCCAGAGTCAGGGAGAACTGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685592
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685625
    reference: chr 21
allele count: 1
allele frequency: 1.25087561292905e-5
allele num: 79944
alternate allele: CGTCACAGAGGTTCCAGAGTCAGGGAGAACTGGG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

21-46685592-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685592
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685592
    reference: chr 21
allele count: 46759
allele frequency: 5.848969278494947e-1
allele num: 79944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1774G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469-42G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-42G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355-42G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200-42G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-42G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.25e1
  variant carriers: 2829
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 780
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.75e1
  variant carriers: 5240
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 1.75e1
  variant carriers: 9060
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 1425
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 2898
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 2.25e1
  variant carriers: 8194
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 140
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 1.25e1
  variant carriers: 7070
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.75e1
  variant carriers: 434
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.75e1
  variant carriers: 898
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.75e1
  variant carriers: 530
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 786
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 7.25e1
  variant carriers: 568
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 6.25e1
  variant carriers: 1114
genotype quality: GenotypeQuality
  all individuals: 27019
  bin: 9.75e1
  variant carriers: 26839
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 733
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 877
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 4.25e1
  variant carriers: 577
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.25e1
  variant carriers: 594
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 216
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 6.75e1
  variant carriers: 1059
num of homozygotes: 10979
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

21-46685593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685593
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685593
    reference: chr 21
allele count: 1
allele frequency: 1.921894218942189e-5
allele num: 52032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-43C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-43C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355-43C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469-43C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1773C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200-43C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

21-46685598-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685598
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685598
    reference: chr 21
allele count: 4
allele frequency: 6.905123601712471e-5
allele num: 57928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-48T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-48T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200-48T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355-48T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1768T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469-48T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11060
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24706
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-46685599-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685599
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685599
    reference: chr 21
allele count: 2
allele frequency: 3.336336035765522e-5
allele num: 59946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-49C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200-49C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469-49C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355-49C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1767C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-49C>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum

21-46685601-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46685601
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46685601
    reference: chr 21
allele count: 1
allele frequency: 1.594336915276936e-5
allele num: 62722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-51C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*200-51C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1765C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.355-51C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-51C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1469-51C>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21055
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS

21-46686087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686087
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686087
    reference: chr 21
allele count: 9
allele frequency: 7.422925292380779e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1279G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1318G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-537G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.204G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*49G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-537G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

21-46686088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686088
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686088
    reference: chr 21
allele count: 6
allele frequency: 4.948780125699015e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-538G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1278G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-538G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.203G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*48G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1317G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

21-46686089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686089
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686089
    reference: chr 21
allele count: 10
allele frequency: 8.24783082049421e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1316C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1277C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*47C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.202C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-539C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-539C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54649
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

21-46686096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686096
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686096
    reference: chr 21
allele count: 5
allele frequency: 4.123915410247105e-5
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1270G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1309G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*40G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-546G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.195G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-546G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

21-46686097-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686097
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686097
    reference: chr 21
allele count: 8
allele frequency: 6.598155815449583e-5
allele num: 121246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1269C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-547C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1308C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*39C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.194C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-547C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4454
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54659
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

21-46686098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686098
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686098
    reference: chr 21
allele count: 4
allele frequency: 3.298969072164949e-5
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*38C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-548C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-548C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1268C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.193C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1307C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

21-46686102-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686102
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686102
    reference: chr 21
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*34G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-552G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1303G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1264G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.189G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-552G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

21-46686102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686102
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686102
    reference: chr 21
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-552G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.189G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*34G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1303G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-552G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1264G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54662
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

21-46686103-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686103
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686103
    reference: chr 21
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.188A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1263A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-553A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*33A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1302A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-553A>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

21-46686105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686105
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686105
    reference: chr 21
allele count: 33
allele frequency: 2.721739273872952e-4
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*31G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-555G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1300G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1261G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.186G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-555G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54662
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-46686106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686106
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686106
    reference: chr 21
allele count: 6
allele frequency: 4.948535233570863e-5
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1299C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*30C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.185C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1260C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-556C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-556C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10681
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
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: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

21-46686113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686113
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686113
    reference: chr 21
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*23C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-563C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.178C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1253C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-563C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1292C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-46686115-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686115
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686115
    reference: chr 21
allele count: 4
allele frequency: 3.298479400996141e-5
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1251G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-565G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*21G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1290G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.176G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-565G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

21-46686117-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686117
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686117
    reference: chr 21
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1249G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.174G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-567G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*19G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1288G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-567G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  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: 818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54665
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

21-46686123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686123
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686123
    reference: chr 21
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1243G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-573G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*13G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1282G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.168G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-573G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

21-46686129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686129
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686129
    reference: chr 21
allele count: 3
allele frequency: 2.473573984597879e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-579G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1276G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.*7G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-579G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1237G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.162G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

21-46686138-ATGAACTTCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686138
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686129
    reference: chr 21
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.144_152delCGAAGTTCA
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: splice acceptor
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54666
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1137-5_1140delCGAAGTTCA
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: ATGAACTTCG
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-46686142-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686142
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686142
    reference: chr 21
allele count: 6
allele frequency: 4.946903238572654e-5
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-592T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.149T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-592T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1224T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137T>C
  hgvsp: ENST00000334538.9:c.1137T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10688
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54667
  bin: 9.75e1
  variant carriers: 6
hgvs: c.1137T>C
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

21-46686147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686147
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686147
    reference: chr 21
allele count: 4
allele frequency: 3.297989875171083e-5
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-5C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-597C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1219C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-5C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.144C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-597C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1137-5C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/21-46686151-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686151
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686151
    reference: chr 21
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-601T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-9T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-9T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1215T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-601T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.140T>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-46686156-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686156
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686156
    reference: chr 21
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-606G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.135G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-14G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1210G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-14G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-606G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-46686160-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686160
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686160
    reference: chr 21
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-18G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.131G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-610G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-18G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-610G>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1206G>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

21-46686165-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686165
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686165
    reference: chr 21
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1201C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-615C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.126C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-615C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-23C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-23C>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
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: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

21-46686168-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686168
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686168
    reference: chr 21
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-26T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-618T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-26T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-618T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1198T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.123T>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

21-46686170-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686170
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686170
    reference: chr 21
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-28C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-28C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1196C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-620C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.121C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-620C>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

21-46686175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686175
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686175
    reference: chr 21
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-625G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-33G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-625G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-33G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.116G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1191G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

21-46686176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686176
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686176
    reference: chr 21
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.115T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1190T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-34T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-626T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-34T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-626T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

21-46686178-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686178
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686178
    reference: chr 21
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.113T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-628T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1188T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-36T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-628T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-36T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

21-46686189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686189
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686189
    reference: chr 21
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1177G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-639G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-639G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-47G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-47G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.102G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

21-46686190-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686190
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686190
    reference: chr 21
allele count: 335
allele frequency: 2.762157616134298e-3
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.381-640T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1137-48T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  hgvsc: ENST00000485190.1:n.101T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1137-640T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*1176T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1263-48T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 8.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 8.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4795
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 7.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 8
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

21-46686192-GCACAGCGCTGTACACAGAGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46686192
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46686172
    reference: chr 21
allele count: 14
allele frequency: 1.154467790348649e-4
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000485190
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: GCACAGCGCTGTACACAGAGC
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

21-46687315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687315
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687315
    reference: chr 21
allele count: 13
allele frequency: 1.08196284706039e-4
allele num: 120152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+190C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*51C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+190C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+190C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+190C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

21-46687319-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687319
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687319
    reference: chr 21
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+186T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+186T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+186T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+186T>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*47T>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

21-46687320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687320
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687320
    reference: chr 21
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+185T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+185T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+185T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*46T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+185T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35754
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

21-46687321-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687321
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687321
    reference: chr 21
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*45A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+184A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+184A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+184A>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+184A>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7774
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

21-46687336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687336
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687336
    reference: chr 21
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+169C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*30C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+169C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+169C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+169C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7822
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35825
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/21-46687338-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687338
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687338
    reference: chr 21
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+167T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+167T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*28T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+167T>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+167T>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35835
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-46687342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687342
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687342
    reference: chr 21
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*24T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+163T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+163T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+163T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+163T>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

21-46687343-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687343
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687343
    reference: chr 21
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+162G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+162G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*23G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+162G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+162G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35842
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-46687348-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687348
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687348
    reference: chr 21
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*18G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+157G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+157G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+157G>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+157G>C
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35852
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

21-46687354-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687354
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687354
    reference: chr 21
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+151C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*12C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+151C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+151C>G
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+151C>G
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

21-46687360-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687360
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687360
    reference: chr 21
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+145C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+145C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+145C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.*6C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+145C>T
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

21-46687371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687371
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687371
    reference: chr 21
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+134G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.1270G>A
  hgvsp: ENSP00000329682.7:p.Val424Ile
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+134G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+134G>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+134G>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val424Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

21-46687372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687372
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687372
    reference: chr 21
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+133C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+133C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+133C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+133C>T
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.1269C>T
  hgvsp: ENST00000331343.7:c.1269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35879
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu423Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-46687383-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687383
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687382
    reference: chr 21
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+121delT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.1257delT
  hgvsp: ENSP00000329682.7:p.Val420PhefsTer128
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+121delT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+121delT
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+121delT
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35884
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val420PhefsTer128
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: CA
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-46687384-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687384
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687384
    reference: chr 21
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+121T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+121T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+121T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+121T>C
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.1257T>C
  hgvsp: ENST00000331343.7:c.1257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr419Thr
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: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

21-46687385-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46687385
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 46687385
    reference: chr 21
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000329682
  ensembl transcript: ENST00000331343
  gene symbol: POFUT2
  hgvsc: ENST00000331343.7:c.1256C>A
  hgvsp: ENSP00000329682.7:p.Thr419Asn
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000335427
  ensembl transcript: ENST00000334538
  gene symbol: POFUT2
  hgvsc: ENST00000334538.9:c.1136+120C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000460932
  gene symbol: POFUT2
  hgvsc: ENST00000460932.1:n.380+120C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl transcript: ENST00000471540
  gene symbol: POFUT2
  hgvsc: ENST00000471540.1:n.1262+120C>A
  variant of: http://identifiers.org/hgnc/14683
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000186866
  ensembl protein: ENSP00000339613
  ensembl transcript: ENST00000349485
  gene symbol: POFUT2
  hgvsc: ENST00000349485.5:c.1136+120C>A
  variant of: http://identifiers.org/hgnc/14683
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr419Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

20-62293860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62293860
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62293860
    reference: chr 20
allele count: 1
allele frequency: 1.230526911623557e-5
allele num: 81266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.396-39G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.396-39G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000349265
  ensembl transcript: ENST00000356810
  gene symbol: RTEL1
  hgvsc: ENST00000356810.4:c.507G>A
  hgvsp: ENST00000356810.4:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.429G>A
  hgvsp: ENST00000508582.2:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.396-39G>A
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.396-39G>A
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.396-39G>A
  variant of: http://identifiers.org/hgnc/15888
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu143Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

20-62293862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62293862
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62293862
    reference: chr 20
allele count: 340
allele frequency: 4.057957176616619e-3
allele num: 83786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000353332
  ensembl transcript: ENST00000360203
  gene symbol: RTEL1
  hgvsc: ENST00000360203.5:c.396-37C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457868
  ensembl transcript: ENST00000482936
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000482936.1:c.396-37C>T
  variant of: http://identifiers.org/hgnc/44095
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000349265
  ensembl transcript: ENST00000356810
  gene symbol: RTEL1
  hgvsc: ENST00000356810.4:c.509C>T
  hgvsp: ENSP00000349265.4:p.Thr170Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000359035
  ensembl transcript: ENST00000370018
  gene symbol: RTEL1
  hgvsc: ENST00000370018.3:c.396-37C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000424307
  ensembl transcript: ENST00000508582
  gene symbol: RTEL1
  hgvsc: ENST00000508582.2:c.431C>T
  hgvsp: ENSP00000424307.2:p.Thr144Ile
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000258366
  ensembl protein: ENSP00000322287
  ensembl transcript: ENST00000318100
  gene symbol: RTEL1
  hgvsc: ENST00000318100.4:c.396-37C>T
  variant of: http://identifiers.org/hgnc/15888
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000026036
  ensembl protein: ENSP00000457428
  ensembl transcript: ENST00000492259
  gene symbol: RTEL1-TNFRSF6B
  hgvsc: ENST00000492259.2:c.396-37C>T
  variant of: http://identifiers.org/hgnc/44095
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27127
  bin: 2.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 17916
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 1.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6283
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 2
hgvs: p.Thr144Ile
num of homozygotes: 1
reference allele: C

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5261
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3406
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.05e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.847208e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.279999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.048e1

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32390
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9458
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505525277769414e-5
allele num: 66422
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

DP
type: SiteQuality
SIO_000300: 1.844228e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

FS
type: SiteQuality
SIO_000300: 4.933e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5256
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
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: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.842213e6

VQSLOD
type: SiteQuality
SIO_000300: -4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 4.506e0

QD
type: SiteQuality
SIO_000300: 1.812e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32209
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 5.711e0

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.841782e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.244e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

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

GenotypeQuality
all individuals: 950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3977
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5246
bin: 9.75e1
variant carriers: 2

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01659125188537e-5
allele num: 66300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.05e-1

DP
type: SiteQuality
SIO_000300: 1.832632e6

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

FS
type: SiteQuality
SIO_000300: 4.102e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

GenotypeQuality
all individuals: 3893
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5235
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513867021920794e-5
allele num: 66056
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.804336e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

GenotypeQuality
all individuals: 2532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5234
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 403
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3267
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.254233036498181e-4
allele num: 15946
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.023e1

VQSLOD
type: SiteQuality
SIO_000300: -1.396e0

DP
type: SiteQuality
SIO_000300: 1.804043e6

MQRankSum
type: SiteQuality
SIO_000300: -1.411e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

GenotypeQuality
all individuals: 8948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5235
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

African
type: Population
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: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15806
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.536067892503536e-4
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65912
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.497e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -8.757e-1

DP
type: SiteQuality
SIO_000300: 1.782761e6

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 2.542e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

GenotypeQuality
all individuals: 2918
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.346788525006347e-5
allele num: 15756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.773503e6

FS
type: SiteQuality
SIO_000300: 4.393e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

MQ
type: SiteQuality
SIO_000300: 5.646e1

QD
type: SiteQuality
SIO_000300: 3.082e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeQuality
all individuals: 227
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1592
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8304
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1738
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 3090
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044974269967419e-5
allele num: 65682
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: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.114605171208945e-4
allele num: 11448
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.74309e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

FS
type: SiteQuality
SIO_000300: 8.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.86e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

GenotypeQuality
all individuals: 24041
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8185
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1186
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5350
bin: 9.75e1
variant carriers: 223

GenotypeQuality
all individuals: 449
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 9.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15494
num of homozygotes: 0

African
type: Population
allele count: 225
allele frequency: 2.219810576164167e-2
allele num: 10136
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.129597197898424e-4
allele num: 11420
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.351e1

DP
type: SiteQuality
SIO_000300: 1.740112e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.772e0

GenotypeQuality
all individuals: 243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7303
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5132
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64964
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.578947368421052e-5
allele num: 15200
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
SIO_000300: -2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.32e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.08e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.708683e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

GenotypeQuality
all individuals: 757
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.513e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

FS
type: SiteQuality
SIO_000300: 2.814e0

QD
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: -2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.31e-2

DP
type: SiteQuality
SIO_000300: 1.338819e6

VQSLOD
type: SiteQuality
SIO_000300: -1.542e-1

GenotypeQuality
all individuals: 549
bin: 4.25e1
variant carriers: 335

GenotypeQuality
all individuals: 549
bin: 4.75e1
variant carriers: 344

GenotypeQuality
all individuals: 1657
bin: 7.25e1
variant carriers: 477

GenotypeQuality
all individuals: 1833
bin: 7.75e1
variant carriers: 435

GenotypeQuality
all individuals: 25467
bin: 9.75e1
variant carriers: 24128

GenotypeQuality
all individuals: 1453
bin: 3.25e1
variant carriers: 179

African
type: Population
allele count: 2502
allele frequency: 2.622091804653113e-1
allele num: 9542
num of homozygotes: 326

European (Non-Finnish)
type: Population
allele count: 15979
allele frequency: 2.550355923005714e-1
allele num: 62654
num of homozygotes: 1872

European (Finnish)
type: Population
allele count: 1535
allele frequency: 2.411247251021049e-1
allele num: 6366
num of homozygotes: 147

East Asian
type: Population
allele count: 3101
allele frequency: 3.967502558853633e-1
allele num: 7816
num of homozygotes: 616

Latino
type: Population
allele count: 2153
allele frequency: 1.974142673757565e-1
allele num: 10906
num of homozygotes: 205

South Asian
type: Population
allele count: 4335
allele frequency: 3.43393536121673e-1
allele num: 12624
num of homozygotes: 836

Other
type: Population
allele count: 236
allele frequency: 2.864077669902912e-1
allele num: 824
num of homozygotes: 40

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.31e-2

DP
type: SiteQuality
SIO_000300: 1.338819e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQ
type: SiteQuality
SIO_000300: 5.513e1

MQRankSum
type: SiteQuality
SIO_000300: -2.45e0

FS
type: SiteQuality
SIO_000300: 2.814e0

QD
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.542e-1

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 2.0e-4
allele num: 5000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.01e-1

MQ
type: SiteQuality
SIO_000300: 5.444e1

QD
type: SiteQuality
SIO_000300: 3.41e0

DP
type: SiteQuality
SIO_000300: 7.06034e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -3.079e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 435
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1340
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.131287297527707e-4
allele num: 4692
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.432e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 2.807e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 4.468e1

DP
type: SiteQuality
SIO_000300: 6.99142e5

VQSLOD
type: SiteQuality
SIO_000300: -2.697e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.513e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.04e-2

QD
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
all individuals: 1333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4298
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.130379207498935e-4
allele num: 4694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

MQ
type: SiteQuality
SIO_000300: 5.668e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 6.7926e5

FS
type: SiteQuality
SIO_000300: 1.541e0

QD
type: SiteQuality
SIO_000300: 4.1e0

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

GenotypeQuality
all individuals: 641
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.231223836493475e-4
allele num: 8122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.214e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 9.58759e5

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

GenotypeQuality
all individuals: 319
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.2337383845604e-5
allele num: 44768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.58759e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.214e-1

QD
type: SiteQuality
SIO_000300: 2.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1258
bin: 5.25e1
variant carriers: 1119

GenotypeQuality
all individuals: 336
bin: 1.25e1
variant carriers: 250

GenotypeQuality
all individuals: 641
bin: 5.75e1
variant carriers: 593

GenotypeQuality
all individuals: 1082
bin: 2.25e1
variant carriers: 572

GenotypeQuality
all individuals: 1172
bin: 2.5e0
variant carriers: 38

GenotypeQuality
all individuals: 1337
bin: 4.75e1
variant carriers: 1001

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 447

GenotypeQuality
all individuals: 689
bin: 2.75e1
variant carriers: 400

European (Finnish)
type: Population
allele count: 2783
allele frequency: 5.764291632145816e-1
allele num: 4828
num of homozygotes: 628

Other
type: Population
allele count: 338
allele frequency: 5.929824561403508e-1
allele num: 570
num of homozygotes: 75

European (Non-Finnish)
type: Population
allele count: 23975
allele frequency: 5.35538777698356e-1
allele num: 44768
num of homozygotes: 4831

African
type: Population
allele count: 6132
allele frequency: 7.549864565377986e-1
allele num: 8122
num of homozygotes: 2085

East Asian
type: Population
allele count: 3343
allele frequency: 6.32664647993944e-1
allele num: 5284
num of homozygotes: 763

Latino
type: Population
allele count: 6112
allele frequency: 6.750607466313232e-1
allele num: 9054
num of homozygotes: 1801

South Asian
type: Population
allele count: 4076
allele frequency: 5.569827821809238e-1
allele num: 7318
num of homozygotes: 796

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 9.58759e5

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.214e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 2.266e1

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

GenotypeQuality
all individuals: 2460
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.525252525252525e-4
allele num: 3960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31094
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.785e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.406e1

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 6.41534e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.68e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

FS
type: SiteQuality
SIO_000300: 2.631e0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1571
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.153668666359022e-4
allele num: 34672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3690
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.149256e6

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.157e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.143e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

GenotypeQuality
all individuals: 1429
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 944
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3754
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3676
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.858736059479554e-4
allele num: 5380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.453911020645536e-4
allele num: 6878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3818
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.072e-1

QD
type: SiteQuality
SIO_000300: 1.894e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 4.102e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 1.148248e6

MQ
type: SiteQuality
SIO_000300: 5.58e1

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 1819
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1890
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5648
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.056766762649116e-4
allele num: 4862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

DP
type: SiteQuality
SIO_000300: 1.146994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.292e-1

QD
type: SiteQuality
SIO_000300: 6.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.534e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54654
bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 7.75e1
variant carriers: 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: 8
allele frequency: 1.200876639947161e-4
allele num: 66618
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.351916e6

QD
type: SiteQuality
SIO_000300: 1.262e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 2.138e0

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 583
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54647
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.635482307319437e-4
allele num: 16504
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.352024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

FS
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeQuality
all individuals: 983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 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: 6612
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: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050672430355427e-4
allele num: 66624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 4.352139e6

QD
type: SiteQuality
SIO_000300: 1.379e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 54658
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 739
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 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: 10380
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.016e0

DP
type: SiteQuality
SIO_000300: 4.35303e6

QD
type: SiteQuality
SIO_000300: 1.432e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 1116
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050735514860402e-4
allele num: 66620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.87e-1

DP
type: SiteQuality
SIO_000300: 4.353291e6

FS
type: SiteQuality
SIO_000300: 7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54660
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 904
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

DP
type: SiteQuality
SIO_000300: 4.35344e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.353e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

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

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

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

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54662
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 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: 8648
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: 10380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 3.191e0

DP
type: SiteQuality
SIO_000300: 4.353955e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.195e1

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
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: 10380
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

QD
type: SiteQuality
SIO_000300: 1.195e1

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 3.191e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 4.353955e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54662
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.201e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: -5.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

DP
type: SiteQuality
SIO_000300: 4.354041e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

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

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

East Asian
type: Population
allele count: 28
allele frequency: 3.237742830712303e-3
allele num: 8648
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
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: 10380
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e0

DP
type: SiteQuality
SIO_000300: 4.35509e6

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 6.22e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

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

GenotypeQuality
all individuals: 1221
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 814
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54665
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.003482019571351e-5
allele num: 66628
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
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: 8646
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: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 4.355185e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.93e1

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 1.791e0

DP
type: SiteQuality
SIO_000300: 4.355889e6

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54665
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 17
bin: 4.25e1
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: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 6.589e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 4.356207e6

VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 804
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: 11570
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.234e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.61e-1

DP
type: SiteQuality
SIO_000300: 4.35624e6

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

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

GenotypeQuality
all individuals: 1002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54666
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.926411096127914e-4
allele num: 10382
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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 2.971e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.51e-1

DP
type: SiteQuality
SIO_000300: 4.356643e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.439e0

GenotypeQuality
all individuals: 594
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 764
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54666
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 813
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 6.25e1
variant carriers: 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

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

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 66650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.281e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

FS
type: SiteQuality
SIO_000300: 1.115e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

DP
type: SiteQuality
SIO_000300: 4.356964e6

GenotypeQuality
all individuals: 768
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

DP
type: SiteQuality
SIO_000300: 4.357076e6

FS
type: SiteQuality
SIO_000300: 2.862e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.797e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.345e1

MQRankSum
type: SiteQuality
SIO_000300: -6.625e0

QD
type: SiteQuality
SIO_000300: 3.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.814172925091469e-4
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
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: 66656
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: 6614
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.357322e6

FS
type: SiteQuality
SIO_000300: 1.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: 7.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54667
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 4.357341e6

GenotypeQuality
all individuals: 54667
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 590
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1003
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 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: 8648
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

QD
type: SiteQuality
SIO_000300: 1.239e1

VQSLOD
type: SiteQuality
SIO_000300: -4.72e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 4.357195e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 9.619999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.65e-1

GenotypeQuality
all individuals: 821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54667
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
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: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.98e0

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 4.357016e6

VQSLOD
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.075e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 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: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.833e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 4.356868e6

FS
type: SiteQuality
SIO_000300: 2.841e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 8.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

GenotypeQuality
all individuals: 762
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 589
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54668
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1289
bin: 6.25e1
variant carriers: 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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.411e0

FS
type: SiteQuality
SIO_000300: 2.1573e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.31e0

QD
type: SiteQuality
SIO_000300: 1.551e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.142e0

DP
type: SiteQuality
SIO_000300: 4.356678e6

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

GenotypeQuality
all individuals: 1262
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 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: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
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

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

DP
type: SiteQuality
SIO_000300: 4.356476e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.084e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.143e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

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

GenotypeQuality
all individuals: 1241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 6614
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.356452e6

MQ
type: SiteQuality
SIO_000300: 5.891e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 7.91e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

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

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54668
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 6614
num of homozygotes: 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: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
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: 10390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.82e-1

FS
type: SiteQuality
SIO_000300: 1.503e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 4.356259e6

QD
type: SiteQuality
SIO_000300: 1.062e1

MQRankSum
type: SiteQuality
SIO_000300: -7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.217e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54668
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
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: 8648
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 4.356089e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

FS
type: SiteQuality
SIO_000300: 3.514e0

QD
type: SiteQuality
SIO_000300: 1.151e1

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54669
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
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: 6614
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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: -1.188e0

FS
type: SiteQuality
SIO_000300: 6.063e0

DP
type: SiteQuality
SIO_000300: 4.355932e6

GenotypeQuality
all individuals: 751
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54667
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 4.355556e6

QD
type: SiteQuality
SIO_000300: 1.48e1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 6.866e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.527e0

GenotypeQuality
all individuals: 444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54696
bin: 9.75e1
variant carriers: 327

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 331
allele frequency: 2.004845548152635e-2
allele num: 16510
num of homozygotes: 8

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
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: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.56e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

DP
type: SiteQuality
SIO_000300: 4.359398e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.05e0

QD
type: SiteQuality
SIO_000300: 1.403e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

GenotypeQuality
all individuals: 591
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54683
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.800720288115246e-4
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.458e-1

FS
type: SiteQuality
SIO_000300: 2.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.837e0

MQ
type: SiteQuality
SIO_000300: 5.267e1

DP
type: SiteQuality
SIO_000300: 4.359371e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

GenotypeQuality
all individuals: 3142
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1903
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35744
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2571
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.263116984065293e-3
allele num: 10292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.993e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.053e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

DP
type: SiteQuality
SIO_000300: 2.528453e6

GenotypeQuality
all individuals: 949
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508386629660915e-5
allele num: 66296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

DP
type: SiteQuality
SIO_000300: 2.532276e6

FS
type: SiteQuality
SIO_000300: 3.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.349e1

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 1
allele frequency: 6.251562890722681e-5
allele num: 15996
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.691e1

QD
type: SiteQuality
SIO_000300: 9.76e0

VQSLOD
type: SiteQuality
SIO_000300: -2.256e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.445e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

DP
type: SiteQuality
SIO_000300: 2.533387e6

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

GenotypeQuality
all individuals: 5161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35763
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508386629660915e-5
allele num: 66296
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: 11536
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 2.534226e6

FS
type: SiteQuality
SIO_000300: 9.432e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

QD
type: SiteQuality
SIO_000300: 1.501e1

VQSLOD
type: SiteQuality
SIO_000300: -8.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
all individuals: 2997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.105e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 2.559849e6

FS
type: SiteQuality
SIO_000300: 1.261e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

GenotypeQuality
all individuals: 2722
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.178942165101334e-5
allele num: 16184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66382
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: 11548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

DP
type: SiteQuality
SIO_000300: 2.562099e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

QD
type: SiteQuality
SIO_000300: 1.725e1

GenotypeQuality
all individuals: 1984
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35843
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.258e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.652e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 2.565971e6

MQ
type: SiteQuality
SIO_000300: 5.888e1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

GenotypeQuality
all individuals: 1614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
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: 10316
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: 11550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.058e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

FS
type: SiteQuality
SIO_000300: 4.971e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

DP
type: SiteQuality
SIO_000300: 2.567433e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
all individuals: 372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 1.504619180885318e-5
allele num: 66462
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: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.446e0

DP
type: SiteQuality
SIO_000300: 2.571534e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

GenotypeQuality
all individuals: 282
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35854
bin: 9.75e1
variant carriers: 1

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: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 5.106e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

QD
type: SiteQuality
SIO_000300: 1.101e1

MQRankSum
type: SiteQuality
SIO_000300: -9.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 2.575697e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

GenotypeQuality
all individuals: 221
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35863
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 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: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 5.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.008e0

DP
type: SiteQuality
SIO_000300: 2.579282e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.685e0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35875
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2843
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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: 2
allele frequency: 3.002912825440678e-5
allele num: 66602
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.106e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

DP
type: SiteQuality
SIO_000300: 2.583141e6

GenotypeQuality
all individuals: 3057
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8936
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3242
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
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: 10362
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.583441e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

FS
type: SiteQuality
SIO_000300: 1.958e0

QD
type: SiteQuality
SIO_000300: 1.412e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 66664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 1.252e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

DP
type: SiteQuality
SIO_000300: 2.584949e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 6.047e1

QD
type: SiteQuality
SIO_000300: 1.833e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 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: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.159e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.398e0

DP
type: SiteQuality
SIO_000300: 2.584985e6

FS
type: SiteQuality
SIO_000300: 2.234e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.94e-1

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
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: 10372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 66674
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -1.306e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.861e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 2.909e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

DP
type: SiteQuality
SIO_000300: 2.585187e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.17e-2

QD
type: SiteQuality
SIO_000300: 1.422e1

GenotypeQuality
all individuals: 19434
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1496
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.181786446742593e-5
allele num: 45834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12240
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4302
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

DP
type: SiteQuality
SIO_000300: 1.040009e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

QD
type: SiteQuality
SIO_000300: 1.48e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.972e0

VQSLOD
type: SiteQuality
SIO_000300: -8.043e-1

GenotypeQuality
all individuals: 647
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 656
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26469
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 432
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 18307
bin: 2.25e1
variant carriers: 0