http://identifiers.org/exac.variant/20-3760296-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760296
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760295
    reference: chr 20
allele count: 2
allele frequency: 1.681265656786429e-5
allele num: 118958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.382+14delT
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.221+14delT
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.382+14delT
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: CA
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

20-3760297-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760297
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760297
    reference: chr 20
allele count: 1
allele frequency: 8.397292712829384e-6
allele num: 119086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.382+14T>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.221+14T>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.382+14T>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6190
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
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genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

20-3760301-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760301
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760301
    reference: chr 20
allele count: 1
allele frequency: 8.365400702693659e-6
allele num: 119540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.382+10T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.221+10T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.382+10T>C
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32283
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 353
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

20-3760312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760312
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760312
    reference: chr 20
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.381A>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.220A>G
  hgvsp: ENSP00000369080.3:p.Arg74Gly
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.381A>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6416
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg74Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-3760318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760318
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760318
    reference: chr 20
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.375C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.214C>T
  hgvsp: ENST00000379756.3:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.375C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu72Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

20-3760321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760321
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760321
    reference: chr 20
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.211C>T
  hgvsp: ENSP00000369080.3:p.His71Tyr
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.372C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.372C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His71Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

20-3760323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760323
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760323
    reference: chr 20
allele count: 10
allele frequency: 8.296689620841284e-5
allele num: 120530
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.209G>A
  hgvsp: ENSP00000369080.3:p.Gly70Asp
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.370G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.370G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly70Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

20-3760325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760325
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760325
    reference: chr 20
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.207G>A
  hgvsp: ENSP00000369080.3:p.Trp69Ter
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.368G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.368G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48173
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp69Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-3760326-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760326
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760326
    reference: chr 20
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.367G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.367G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.206G>T
  hgvsp: ENSP00000369080.3:p.Trp69Leu
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp69Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-3760349-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760349
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760349
    reference: chr 20
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.344T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.344T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.183T>C
  hgvsp: ENST00000379756.3:c.183T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  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: 703
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6482
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser61Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

20-3760357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760357
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760357
    reference: chr 20
allele count: 2
allele frequency: 1.657989853102099e-5
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.336G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.336G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.175G>A
  hgvsp: ENSP00000369080.3:p.Ala59Thr
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala59Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

20-3760358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760358
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760358
    reference: chr 20
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.174C>T
  hgvsp: ENST00000379756.3:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.335C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.335C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro58Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

20-3760360-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760360
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760360
    reference: chr 20
allele count: 2
allele frequency: 1.657962364254331e-5
allele num: 120630
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.172C>G
  hgvsp: ENSP00000369080.3:p.Pro58Ala
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.333C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.333C>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro58Ala
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

20-3760362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760362
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760362
    reference: chr 20
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.331T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.331T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.170T>C
  hgvsp: ENSP00000369080.3:p.Val57Ala
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 5422
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genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 139
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 699
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6474
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val57Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-3760367-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760367
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760367
    reference: chr 20
allele count: 1
allele frequency: 8.29132395860971e-6
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.165T>G
  hgvsp: ENSP00000369080.3:p.Asn55Lys
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.326T>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.326T>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6462
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 48261
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 64
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genotype quality: GenotypeQuality
  all individuals: 698
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genotype quality: GenotypeQuality
  all individuals: 1420
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genotype quality: GenotypeQuality
  all individuals: 260
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn55Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

20-3760381-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760381
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760381
    reference: chr 20
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.312G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.151G>C
  hgvsp: ENSP00000369080.3:p.Val51Leu
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.312G>C
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32689
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 18593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 338
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genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val51Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

20-3760400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760400
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760400
    reference: chr 20
allele count: 1
allele frequency: 8.363022061652199e-6
allele num: 119574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.293G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.132G>A
  hgvsp: ENST00000379756.3:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.293G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys44Lys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

20-3760408-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760408
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760408
    reference: chr 20
allele count: 1
allele frequency: 8.399690891375198e-6
allele num: 119052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.285G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.285G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.124G>A
  hgvsp: ENSP00000369080.3:p.Val42Ile
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val42Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

20-3760410-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760410
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760410
    reference: chr 20
allele count: 1
allele frequency: 8.409297319116015e-6
allele num: 118916
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.122A>G
  hgvsp: ENSP00000369080.3:p.Glu41Gly
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.283A>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.283A>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu41Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum

20-3760428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760428
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760428
    reference: chr 20
allele count: 5
allele frequency: 4.299374011143977e-5
allele num: 116296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.271-6C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.271-6C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.110-6C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.75e1
  variant carriers: 5
hgvs: c.110-6C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-3760430-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760430
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760430
    reference: chr 20
allele count: 1
allele frequency: 8.65321380360666e-6
allele num: 115564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.271-8T>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.110-8T>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.271-8T>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
hgvs: c.110-8T>G
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

20-3760436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760436
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760436
    reference: chr 20
allele count: 3
allele frequency: 2.613240418118467e-5
allele num: 114800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.271-14C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.271-14C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.110-14C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8043
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/20-3760443-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760443
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760443
    reference: chr 20
allele count: 1
allele frequency: 8.82674857889348e-6
allele num: 113292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.110-21G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.271-21G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.271-21G>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20689
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

20-3760445-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760445
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760445
    reference: chr 20
allele count: 2
allele frequency: 1.769692250517635e-5
allele num: 113014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.271-23A>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.110-23A>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.271-23A>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28933
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

20-3760451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760451
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760451
    reference: chr 20
allele count: 2
allele frequency: 1.787853324513257e-5
allele num: 111866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.271-29C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.271-29C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.110-29C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 13146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

20-3760459-A-ATC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760459
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760461
    reference: chr 20
allele count: 2
allele frequency: 1.839689460419081e-5
allele num: 108714
alternate allele: ATC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.271-38_271-37insGA
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.271-38_271-37insGA
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.110-38_110-37insGA
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16433
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

20-3760460-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3760460
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3760460
    reference: chr 20
allele count: 1
allele frequency: 9.24487833740108e-6
allele num: 108168
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.271-38A>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.110-38A>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.271-38A>C
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7787
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

20-3761781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761781
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761781
    reference: chr 20
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+45G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+45G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+45G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1937
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8989
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

20-3761783-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761783
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761783
    reference: chr 20
allele count: 1
allele frequency: 8.309098462816784e-6
allele num: 120350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+43G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+43G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+43G>C
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8964
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-3761784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761784
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761784
    reference: chr 20
allele count: 5
allele frequency: 4.153651890742341e-5
allele num: 120376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+42C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+42C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+42C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

20-3761784-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761784
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761784
    reference: chr 20
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+42C>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+42C>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+42C>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

20-3761807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761807
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761807
    reference: chr 20
allele count: 4
allele frequency: 3.319006289516919e-5
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+19C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+19C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+19C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-3761808-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761808
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761808
    reference: chr 20
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+18T>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+18T>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+18T>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
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genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 9101
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 103
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genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-3761813-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761813
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761812
    reference: chr 20
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+12delT
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+12delT
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+12delT
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: CA
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

20-3761815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761815
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761815
    reference: chr 20
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+11T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+11T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+11T>C
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44485
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

20-3761825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761825
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761825
    reference: chr 20
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.109+1G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.270+1G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.270+1G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 1
hgvs: c.109+1G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

20-3761836-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761836
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761836
    reference: chr 20
allele count: 3
allele frequency: 2.486737400530504e-5
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.260T>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.99T>C
  hgvsp: ENST00000379756.3:c.99T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.260T>C
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 13
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 44716
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9120
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe33Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-3761843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761843
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761843
    reference: chr 20
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.253G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.253G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.92G>A
  hgvsp: ENSP00000369080.3:p.Arg31Gln
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg31Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

20-3761844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761844
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761844
    reference: chr 20
allele count: 2
allele frequency: 1.657797450307521e-5
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.91C>T
  hgvsp: ENSP00000369080.3:p.Arg31Trp
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.252C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.252C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9126
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg31Trp
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: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-3761848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761848
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761848
    reference: chr 20
allele count: 209
allele frequency: 1.732283464566929e-3
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.87C>T
  hgvsp: ENST00000379756.3:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.248C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.248C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30644
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 207
genotype quality: GenotypeQuality
  all individuals: 9112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu29Leu
num of homozygotes: 2
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

20-3761849-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761849
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761848
    reference: chr 20
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.85delC
  hgvsp: ENSP00000369080.3:p.Leu29SerfsTer44
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.246delC
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.246delC
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 14726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu29SerfsTer44
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: AG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

20-3761850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761850
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761850
    reference: chr 20
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.85C>T
  hgvsp: ENSP00000369080.3:p.Leu29Phe
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.246C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.246C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9142
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu29Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

20-3761855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761855
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761855
    reference: chr 20
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.80G>A
  hgvsp: ENSP00000369080.3:p.Arg27Gln
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.241G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.241G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg27Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

20-3761865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761865
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761865
    reference: chr 20
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.70C>T
  hgvsp: ENSP00000369080.3:p.Arg24Trp
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.231C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.231C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg24Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

20-3761881-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761881
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761881
    reference: chr 20
allele count: 2
allele frequency: 1.659090154959021e-5
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.215C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.215C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.54C>T
  hgvsp: ENST00000379756.3:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp18Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-3761906-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761906
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761906
    reference: chr 20
allele count: 8
allele frequency: 6.673785371062466e-5
allele num: 119872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.190T>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.29T>G
  hgvsp: ENSP00000369080.3:p.Leu10Arg
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.190T>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14380
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30219
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu10Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-3761914-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761914
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761914
    reference: chr 20
allele count: 3
allele frequency: 2.532414910858995e-5
allele num: 118464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.182G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.182G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.21G>T
  hgvsp: ENSP00000369080.3:p.Glu7Asp
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Glu7Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

20-3761917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761917
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761917
    reference: chr 20
allele count: 3
allele frequency: 2.538028121351585e-5
allele num: 118202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.179C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.179C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.18C>T
  hgvsp: ENST00000379756.3:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp6Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

20-3761917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761917
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761917
    reference: chr 20
allele count: 1
allele frequency: 8.460093737838614e-6
allele num: 118202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.179C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.179C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.18C>G
  hgvsp: ENSP00000369080.3:p.Asp6Glu
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp6Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

20-3761919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761919
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761919
    reference: chr 20
allele count: 1
allele frequency: 8.499643014993371e-6
allele num: 117652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.177G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.16G>A
  hgvsp: ENSP00000369080.3:p.Asp6Asn
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.177G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9630
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3797
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp6Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

20-3761927-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761927
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761927
    reference: chr 20
allele count: 3
allele frequency: 2.591658315767649e-5
allele num: 115756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.169G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.169G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.8G>C
  hgvsp: ENSP00000369080.3:p.Ser3Thr
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26673
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38945
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser3Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-3761930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761930
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761930
    reference: chr 20
allele count: 23
allele frequency: 2.009540950949727e-4
allele num: 114454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.166C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.166C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.5C>G
  hgvsp: ENSP00000369080.3:p.Ala2Gly
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25487
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala2Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-3761931-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761931
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761931
    reference: chr 20
allele count: 2
allele frequency: 1.761152498194819e-5
allele num: 113562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.165G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.165G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.4G>T
  hgvsp: ENSP00000369080.3:p.Ala2Ser
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9027
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala2Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

20-3761936-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761936
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761936
    reference: chr 20
allele count: 1
allele frequency: 8.936710218234464e-6
allele num: 111898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-2C>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.160C>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.160C>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6041
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33302
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 793
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 11337
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

20-3761937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761937
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761937
    reference: chr 20
allele count: 899
allele frequency: 8.1457721720851e-3
allele num: 110364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-3C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.159C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.159C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9025
  bin: 3.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 20932
  bin: 2.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 2851
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  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5340
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 13340
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 9.75e1
  variant carriers: 897
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 3
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/20-3761938-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761938
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761938
    reference: chr 20
allele count: 898
allele frequency: 8.145420242004245e-3
allele num: 110246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.158G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.158G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-4G>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 182
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  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 66
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
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  variant carriers: 15
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 164
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
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  variant carriers: 144
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 85
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8983
  bin: 3.25e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
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genotype quality: GenotypeQuality
  all individuals: 283
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 837
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genotype quality: GenotypeQuality
  all individuals: 13395
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 9.75e1
  variant carriers: 897
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 400
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 198
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 3
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

20-3761942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761942
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761942
    reference: chr 20
allele count: 1
allele frequency: 9.298000929800094e-6
allele num: 107550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-8G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.154G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.154G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD

20-3761944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761944
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761944
    reference: chr 20
allele count: 1
allele frequency: 9.485686099675589e-6
allele num: 105422
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-10G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.152G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.152G>C
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
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  all individuals: 423
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

20-3761947-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761947
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761947
    reference: chr 20
allele count: 2
allele frequency: 1.92975685063682e-5
allele num: 103640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.149C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.149C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-13C>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18217
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

20-3761958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761958
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761958
    reference: chr 20
allele count: 1
allele frequency: 1.049648367796788e-5
allele num: 95270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.138G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-24G>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.138G>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 441
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/20-3761961-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761961
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761961
    reference: chr 20
allele count: 1
allele frequency: 1.060243007697364e-5
allele num: 94318
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-27T>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.135T>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.135T>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10009
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 24045
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

20-3761962-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761962
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761962
    reference: chr 20
allele count: 1
allele frequency: 1.083141978250509e-5
allele num: 92324
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-28C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.134C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.134C>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 10491
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

20-3761970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761970
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761970
    reference: chr 20
allele count: 1
allele frequency: 1.172800412825745e-5
allele num: 85266
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-36C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.126C>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.126C>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-3761972-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761972
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761972
    reference: chr 20
allele count: 1
allele frequency: 1.190504535822282e-5
allele num: 83998
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-38C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.124C>G
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.124C>G
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9955
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22083
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22885
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-3761976-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761976
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761976
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 80656
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-42G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.120G>C
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.120G>C
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14725
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 246
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

20-3761977-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761977
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761977
    reference: chr 20
allele count: 9
allele frequency: 1.146701322528859e-4
allele num: 78486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.119C>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.119C>A
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-43C>A
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20632
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/20-3761980-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3761980
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3761980
    reference: chr 20
allele count: 1
allele frequency: 1.287564700126181e-5
allele num: 77666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000471499
  gene symbol: SPEF1
  hgvsc: ENST00000471499.1:n.116G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101222
  ensembl transcript: ENST00000463490
  gene symbol: SPEF1
  hgvsc: ENST00000463490.1:n.116G>T
  variant of: http://identifiers.org/hgnc/15874
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000101222
  ensembl protein: ENSP00000369080
  ensembl transcript: ENST00000379756
  gene symbol: SPEF1
  hgvsc: ENST00000379756.3:c.-46G>T
  variant of: http://identifiers.org/hgnc/15874
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9831
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
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: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-3765294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765294
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765294
    reference: chr 20
allele count: 1
allele frequency: 8.464103736055389e-6
allele num: 118146
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.*37C>T
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 750
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 378
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11554
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 888
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

20-3765307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765307
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765307
    reference: chr 20
allele count: 1
allele frequency: 8.434121080242228e-6
allele num: 118566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.*24C>T
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14528
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.512401693889897e-4
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

20-3765310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765310
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765310
    reference: chr 20
allele count: 1
allele frequency: 8.424315945545221e-6
allele num: 118704
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.*21C>T
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
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genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 27767
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10372
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11556
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

20-3765311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765311
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765311
    reference: chr 20
allele count: 1
allele frequency: 8.420627168311495e-6
allele num: 118756
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.*20C>T
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14644
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.652015919709292e-5
  allele num: 11558
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

20-3765318-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765318
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765318
    reference: chr 20
allele count: 3
allele frequency: 2.514711059699241e-5
allele num: 119298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.*13A>G
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14351
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10475
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 88
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genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.729804532087874e-4
  allele num: 11562
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10380
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

20-3765328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765328
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765328
    reference: chr 20
allele count: 8
allele frequency: 6.670335351109777e-5
allele num: 119934
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.*3C>G
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 371
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
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  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 38591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 11029
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 7
  allele frequency: 6.737247353224255e-4
  allele num: 10390
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11564
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

20-3765332-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765332
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765332
    reference: chr 20
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.1799G>C
  hgvsp: ENSP00000369075.4:p.Ter600SerextTer38
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ter600SerextTer38
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.506841058405159e-5
  allele num: 66364
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-3765335-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765335
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765335
    reference: chr 20
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.1796G>A
  hgvsp: ENSP00000369075.4:p.Ser599Asn
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser599Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15780
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

20-3765343-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765343
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765343
    reference: chr 20
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.1788A>G
  hgvsp: ENST00000379751.4:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3208
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly596Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66476
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

20-3765344-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 3765344
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 3765344
    reference: chr 20
allele count: 8
allele frequency: 6.631409671911006e-5
allele num: 120638
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125817
  ensembl protein: ENSP00000369075
  ensembl transcript: ENST00000379751
  gene symbol: CENPB
  hgvsc: ENST00000379751.4:c.1787G>C
  hgvsp: ENSP00000369075.4:p.Gly596Ala
  variant of: http://identifiers.org/hgnc/1852
canonical: true
consequence: missense
filter: PASS
hgvs: p.Gly596Ala
num of homozygotes: 1
reference allele: C

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.24285359184688e-4
allele num: 16092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

DP
type: SiteQuality
SIO_000300: 1.506879e6

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 2.608e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
all individuals: 1378
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 9.86e-1

DP
type: SiteQuality
SIO_000300: 1.511145e6

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.236e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
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: 9686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.169031462060457e-5
allele num: 16210
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

FS
type: SiteQuality
SIO_000300: 1.528e0

DP
type: SiteQuality
SIO_000300: 1.522016e6

QD
type: SiteQuality
SIO_000300: 9.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

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

GenotypeQuality
all individuals: 1413
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
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: 16374
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.32e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

FS
type: SiteQuality
SIO_000300: 1.504e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

DP
type: SiteQuality
SIO_000300: 1.538285e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

GenotypeQuality
all individuals: 1421
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.199e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

DP
type: SiteQuality
SIO_000300: 1.542259e6

FS
type: SiteQuality
SIO_000300: 5.214e0

QD
type: SiteQuality
SIO_000300: 6.41e0

MQ
type: SiteQuality
SIO_000300: 5.877e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.944e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

GenotypeQuality
all individuals: 1427
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
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: -1.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

FS
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.919e0

QD
type: SiteQuality
SIO_000300: 1.537e1

DP
type: SiteQuality
SIO_000300: 1.543599e6

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 1244
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.159285879897983e-3
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.951e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 1.544619e6

QD
type: SiteQuality
SIO_000300: 1.189e1

GenotypeQuality
all individuals: 1246
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.937e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

QD
type: SiteQuality
SIO_000300: 1.489e1

VQSLOD
type: SiteQuality
SIO_000300: -5.484e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

DP
type: SiteQuality
SIO_000300: 1.545035e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.021867974657674e-4
allele num: 9786
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: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 16458
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.873e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 5.324e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

QD
type: SiteQuality
SIO_000300: 8.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.82e-1

DP
type: SiteQuality
SIO_000300: 1.545148e6

GenotypeQuality
all individuals: 347
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 1.546846e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.141e1

MQRankSum
type: SiteQuality
SIO_000300: -1.174e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 700
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.251e0

DP
type: SiteQuality
SIO_000300: 1.547223e6

QD
type: SiteQuality
SIO_000300: 7.52e0

FS
type: SiteQuality
SIO_000300: 1.1386e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 345
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.05e1

VQSLOD
type: SiteQuality
SIO_000300: -1.086e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

FS
type: SiteQuality
SIO_000300: 7.902e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

DP
type: SiteQuality
SIO_000300: 1.546881e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

GenotypeQuality
all individuals: 1249
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214329083181542e-4
allele num: 16470
num of homozygotes: 1

Other
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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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QD
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MQ
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FS
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Other
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allele frequency: 1.128668171557562e-3
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66138
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South Asian
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ReadPosRankSum
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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QD
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MQ
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

East Asian
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allele frequency: 5.864414731409805e-4
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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African
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DP
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QD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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African
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European (Non-Finnish)
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allele frequency: 1.539124545958259e-5
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East Asian
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European (Finnish)
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South Asian
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Other
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MQ
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

South Asian
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 4.638362348866693e-5
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African
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Other
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FS
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VQSLOD
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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East Asian
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South Asian
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African
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.560792882784454e-5
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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FS
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DP
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MQ
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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MQ
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DP
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GenotypeQuality
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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East Asian
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.618856439810918e-5
allele num: 61772
num of homozygotes: 0

MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9772
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Latino
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allele frequency: 0.0e0
allele num: 11562
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European (Non-Finnish)
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allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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MQRankSum
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ClippingRankSum
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MQ
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DP
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VQSLOD
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BaseQRankSum
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QD
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FS
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SIO_000300: 5.822e0

InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

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

South Asian
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allele count: 5
allele frequency: 3.050268423621279e-4
allele num: 16392
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8616
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DP
type: SiteQuality
SIO_000300: 1.721675e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

DP
type: SiteQuality
SIO_000300: 1.721675e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66580
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.428068471530897e-4
allele num: 16474
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.73e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
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African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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ClippingRankSum
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66594
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South Asian
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allele frequency: 6.067961165048543e-5
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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InbreedingCoeff
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DP
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FS
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

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

South Asian
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Latino
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African
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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QD
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VQSLOD
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DP
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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Latino
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African
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South Asian
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QD
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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Other
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East Asian
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VQSLOD
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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East Asian
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South Asian
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African
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Other
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Latino
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allele frequency: 1.124178484953303e-3
allele num: 11564
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European (Non-Finnish)
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allele frequency: 1.425185274085631e-3
allele num: 66658
num of homozygotes: 2

VQSLOD
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InbreedingCoeff
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SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.744597e6

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

South Asian
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.898e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 5.991e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

FS
type: SiteQuality
SIO_000300: 1.0048e1

DP
type: SiteQuality
SIO_000300: 1.732973e6

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 259
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 9788
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 1.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.732952e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.575e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.33e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

QD
type: SiteQuality
SIO_000300: 2.93e0

DP
type: SiteQuality
SIO_000300: 1.732872e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 2.934e0

VQSLOD
type: SiteQuality
SIO_000300: -3.153e0

MQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 9788
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: -7.745e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

MQRankSum
type: SiteQuality
SIO_000300: -1.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e0

FS
type: SiteQuality
SIO_000300: 2.279e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.732579e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00336376741951e-5
allele num: 66592
num of homozygotes: 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: 6594
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.943e0

FS
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

QD
type: SiteQuality
SIO_000300: 1.362e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.730694e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
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: 8
allele frequency: 1.231906375115491e-3
allele num: 6494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9710
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66252
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 6.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.463e0

DP
type: SiteQuality
SIO_000300: 1.711637e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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South Asian
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allele count: 1
allele frequency: 6.137981831573779e-5
allele num: 16292
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8466
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.051664683084623e-5
allele num: 65538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.488e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.781e0

FS
type: SiteQuality
SIO_000300: 1.238e0

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

DP
type: SiteQuality
SIO_000300: 1.670768e6

GenotypeQuality
all individuals: 586
bin: 8.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.81057268722467e-5
allele num: 11350
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.662142e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.594e0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

FS
type: SiteQuality
SIO_000300: 3.806e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.662142e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
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allele num: 8398
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536145503702111e-5
allele num: 65098
num of homozygotes: 0

FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.704164413196323e-4
allele num: 11094
num of homozygotes: 0

Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64094
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.579764e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63428
num of homozygotes: 0

Latino
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allele frequency: 2.104300091491308e-3
allele num: 10930
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 15910
num of homozygotes: 0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.175107159866646e-5
allele num: 62990
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

BaseQRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 832
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
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African
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allele count: 1
allele frequency: 1.110864252388358e-4
allele num: 9002
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10570
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.458934e6

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.503e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.747e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

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

European (Non-Finnish)
type: Population
allele count: 769
allele frequency: 1.254813654461197e-2
allele num: 61284
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 87
allele frequency: 1.506754416349151e-2
allele num: 5774
num of homozygotes: 0

Latino
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allele count: 23
allele frequency: 2.218792205286514e-3
allele num: 10366
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Other
type: Population
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allele frequency: 8.474576271186441e-3
allele num: 826
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 1.241534988713318e-3
allele num: 8860
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South Asian
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allele frequency: 1.284356537374775e-4
allele num: 15572
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.286504567091213e-4
allele num: 15546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 768
allele frequency: 1.254614957362695e-2
allele num: 61214
num of homozygotes: 3

Latino
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allele count: 23
allele frequency: 2.218364197530864e-3
allele num: 10368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 87
allele frequency: 1.507276507276507e-2
allele num: 5772
num of homozygotes: 0

Other
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allele count: 7
allele frequency: 8.474576271186441e-3
allele num: 826
num of homozygotes: 0

African
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allele count: 11
allele frequency: 1.242657026660642e-3
allele num: 8852
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7668
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

QD
type: SiteQuality
SIO_000300: 1.875e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.408359e6

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674088458834165e-5
allele num: 59734
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10060
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7364
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.072e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.708467163261122e-5
allele num: 58532
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8448
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 15190
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MQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

DP
type: SiteQuality
SIO_000300: 1.245467e6

FS
type: SiteQuality
SIO_000300: 1.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5346
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7046
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 784
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South Asian
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allele count: 2
allele frequency: 1.328727079457879e-4
allele num: 15052
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57512
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.034e0

VQSLOD
type: SiteQuality
SIO_000300: -1.446e-1

DP
type: SiteQuality
SIO_000300: 1.19231e6

FS
type: SiteQuality
SIO_000300: 3.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.891145656038428e-5
allele num: 52878
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4852
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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FS
type: SiteQuality
SIO_000300: 7.366e0

VQSLOD
type: SiteQuality
SIO_000300: 6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

DP
type: SiteQuality
SIO_000300: 9.87837e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.18e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4776
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52348
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South Asian
type: Population
allele count: 1
allele frequency: 6.968641114982578e-5
allele num: 14350
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7496
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VQSLOD
type: SiteQuality
SIO_000300: -2.17e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.123e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.047e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4692
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51200
num of homozygotes: 0

East Asian
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allele frequency: 1.705320600272851e-4
allele num: 5864
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
SIO_000300: 1.798e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.43125e5

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 5144
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.114522540810285e-5
allele num: 47292
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Latino
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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FS
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ReadPosRankSum
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QD
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.146475487249935e-5
allele num: 46588
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 8.63735e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 43552
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FS
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QD
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MQ
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MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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num of homozygotes: 0

Latino
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Other
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQ
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MQRankSum
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SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.31057e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14220
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.329e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.002e1

DP
type: SiteQuality
SIO_000300: 1.70491e6

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 1.718717e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

FS
type: SiteQuality
SIO_000300: 1.623e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

QD
type: SiteQuality
SIO_000300: 1.398e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

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: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.847439057792385e-5
allele num: 14604
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.863e-1

DP
type: SiteQuality
SIO_000300: 1.721079e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 0
allele frequency: 0.0e0
allele num: 66030
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.881e0

QD
type: SiteQuality
SIO_000300: 9.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.969e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.722201e6

FS
type: SiteQuality
SIO_000300: 1.0521e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.145e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511624391571182e-5
allele num: 66154
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: 15044
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 3.215e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.732829e6

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.182e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15516
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.743813e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.35e-1

QD
type: SiteQuality
SIO_000300: 1.375e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.291e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
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

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.899e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 9.35e0

FS
type: SiteQuality
SIO_000300: 5.674e0

DP
type: SiteQuality
SIO_000300: 1.746545e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.74e0

FS
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 1.748812e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.408e0

QD
type: SiteQuality
SIO_000300: 1.57e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
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: 908
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

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: -4.174e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.752735e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 1.443e0

QD
type: SiteQuality
SIO_000300: 9.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4