10-27128635-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27128635
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27128635
    reference: chr 10
allele count: 3778
allele frequency: 3.538778568752342e-1
allele num: 10676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.168+27C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.118-16401C>A
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 380
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.5e0
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 425
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.25e1
  variant carriers: 502
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 481
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 763
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

10-27128685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27128685
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27128685
    reference: chr 10
allele count: 4
allele frequency: 3.718854592785422e-4
allele num: 10756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.145C>T
  hgvsp: ENST00000346832.5:c.145C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.118-16451C>T
  variant of: http://identifiers.org/hgnc/11320
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu49Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/10-27128745-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27128745
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27128745
    reference: chr 10
allele count: 1
allele frequency: 9.462528387585163e-5
allele num: 10568
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.118-33T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.118-16511T>G
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

10-27149627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149627
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149627
    reference: chr 10
allele count: 1
allele frequency: 8.443521286117163e-6
allele num: 118434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+49C>T
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

10-27149628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149628
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149628
    reference: chr 10
allele count: 2
allele frequency: 1.688447641238645e-5
allele num: 118452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+48C>T
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

10-27149629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149629
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149629
    reference: chr 10
allele count: 1
allele frequency: 8.447801037389967e-6
allele num: 118374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+47G>C
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

10-27149630-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149630
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149630
    reference: chr 10
allele count: 1
allele frequency: 8.441383036196651e-6
allele num: 118464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+46C>A
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

10-27149631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149631
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149631
    reference: chr 10
allele count: 29
allele frequency: 2.447381302006853e-4
allele num: 118494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+45C>T
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8258
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

10-27149642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149642
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149642
    reference: chr 10
allele count: 1
allele frequency: 8.422187410514259e-6
allele num: 118734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+34G>A
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

10-27149648-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149648
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149648
    reference: chr 10
allele count: 1
allele frequency: 8.398280032249395e-6
allele num: 119072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+28C>G
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

10-27149650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149650
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149650
    reference: chr 10
allele count: 2
allele frequency: 1.678500092317505e-5
allele num: 119154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+26C>T
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

10-27149661-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149661
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149661
    reference: chr 10
allele count: 1
allele frequency: 8.339727124128499e-6
allele num: 119908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+15C>G
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

10-27149668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149668
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149668
    reference: chr 10
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+8G>A
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.117+8G>A
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

10-27149671-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149671
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149671
    reference: chr 10
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.117+5G>C
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.117+5G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

10-27149679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27149679
    reference: chr 10
  end: Position
    type: ExactPosition
    position: 27149679
    reference: chr 10
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365312
  ensembl transcript: ENST00000376142
  gene symbol: ABI1
  hgvsc: ENST00000376142.2:c.114A>G
  hgvsp: ENSP00000365312.2:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365310
  ensembl transcript: ENST00000376140
  gene symbol: ABI1
  hgvsc: ENST00000376140.3:c.114A>G
  hgvsp: ENSP00000365310.3:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000279599
  ensembl transcript: ENST00000346832
  gene symbol: ABI1
  hgvsc: ENST00000346832.5:c.114A>G
  hgvsp: ENSP00000279599.8:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365308
  ensembl transcript: ENST00000376138
  gene symbol: ABI1
  hgvsc: ENST00000376138.3:c.114A>G
  hgvsp: ENSP00000365308.3:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365307
  ensembl transcript: ENST00000376137
  gene symbol: ABI1
  hgvsc: ENST00000376137.4:c.114A>G
  hgvsp: ENSP00000365307.4:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365336
  ensembl transcript: ENST00000376166
  gene symbol: ABI1
  hgvsc: ENST00000376166.1:c.114A>G
  hgvsp: ENSP00000365336.1:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000440101
  ensembl transcript: ENST00000490841
  gene symbol: ABI1
  hgvsc: ENST00000490841.2:c.114A>G
  hgvsp: ENSP00000440101.1:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000352114
  ensembl transcript: ENST00000359188
  gene symbol: ABI1
  hgvsc: ENST00000359188.4:c.114A>G
  hgvsp: ENSP00000352114.4:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365330
  ensembl transcript: ENST00000376160
  gene symbol: ABI1
  hgvsc: ENST00000376160.1:c.114A>G
  hgvsp: ENSP00000365330.1:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365340
  ensembl transcript: ENST00000376170
  gene symbol: ABI1
  hgvsc: ENST00000376170.4:c.114A>G
  hgvsp: ENSP00000365340.4:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000439646
  ensembl transcript: ENST00000536334
  gene symbol: ABI1
  hgvsc: ENST00000536334.1:c.114A>G
  hgvsp: ENSP00000439646.1:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365304
  ensembl transcript: ENST00000376134
  gene symbol: ABI1
  hgvsc: ENST00000376134.3:c.114A>G
  hgvsp: ENSP00000365304.3:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000365309
  ensembl transcript: ENST00000376139
  gene symbol: ABI1
  hgvsc: ENST00000376139.2:c.114A>G
  hgvsp: ENSP00000365309.2:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136754
  ensembl protein: ENSP00000347555
  ensembl transcript: ENST00000355394
  gene symbol: ABI1
  hgvsc: ENST00000355394.4:c.114A>G
  hgvsp: ENSP00000347555.4:p.Ile38Met
  variant of: http://identifiers.org/hgnc/11320
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile38Met
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

6-52317798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317798
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317798
    reference: chr 6
allele count: 1
allele frequency: 3.78587112894677e-5
allele num: 26414
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+163C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+163C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+163C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*49C>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17941
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25604
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18833
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

6-52317801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317801
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317801
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 23584
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+166G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+166G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+166G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16414
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

6-52317801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317801
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317801
    reference: chr 6
allele count: 3
allele frequency: 1.272048846675712e-4
allele num: 23584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*52G>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+166G>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+166G>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+166G>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16414
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

6-52317810-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317810
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317810
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 19680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+175T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+175T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*61T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+175T>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31022
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-52317823-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317823
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317823
    reference: chr 6
allele count: 1
allele frequency: 6.124448799608035e-5
allele num: 16328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+188T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+188T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*74T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+188T>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 941
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

6-52317825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317825
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317825
    reference: chr 6
allele count: 1
allele frequency: 6.252344629235963e-5
allele num: 15994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*76T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+190T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+190T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+190T>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 62
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
  all individuals: 160
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

6-52317843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317843
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317843
    reference: chr 6
allele count: 10
allele frequency: 7.621951219512195e-4
allele num: 13120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+208C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+208C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+208C>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  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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genotype depth: GenotypeDepth
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  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 727
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 29746
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
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  variant carriers: 3
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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  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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 301
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 237
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  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27881
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 11
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-52317844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317844
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317844
    reference: chr 6
allele count: 18
allele frequency: 1.378043178686265e-3
allele num: 13062
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+209G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+209G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+209G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*95G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29847
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28115
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

6-52317854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317854
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317854
    reference: chr 6
allele count: 1
allele frequency: 8.078849571820973e-5
allele num: 12378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+219G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+219G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+219G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27686
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25862
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-52317878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317878
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317878
    reference: chr 6
allele count: 1
allele frequency: 8.499065102838688e-5
allele num: 11766
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+243A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*129A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+243A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+243A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

6-52317893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317893
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317893
    reference: chr 6
allele count: 1
allele frequency: 8.634087376964255e-5
allele num: 11582
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+258A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+258A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*144A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+258A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13810
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-52317896-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317896
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317896
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 11532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+261C>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*147C>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+261C>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+261C>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13094
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-52317906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317906
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317906
    reference: chr 6
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+271G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+271G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+271G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*157G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 105
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 399
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 157
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genotype quality: GenotypeQuality
  all individuals: 91
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
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genotype quality: GenotypeQuality
  all individuals: 873
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

6-52317928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317928
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317928
    reference: chr 6
allele count: 7
allele frequency: 6.231084208652305e-4
allele num: 11234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*179C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+293C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+293C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+293C>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 385
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  variant carriers: 1
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: 298
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genotype quality: GenotypeQuality
  all individuals: 394
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genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.25e1
  variant carriers: 1
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: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

6-52317929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317929
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317929
    reference: chr 6
allele count: 2
allele frequency: 1.786033220217896e-4
allele num: 11198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+294G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+294G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*180G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+294G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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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: 40
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
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  variant carriers: 0
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
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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: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 953
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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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genotype quality: GenotypeQuality
  all individuals: 2062
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 298
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genotype quality: GenotypeQuality
  all individuals: 7510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-52317939-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52317939
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52317939
    reference: chr 6
allele count: 5
allele frequency: 4.481893151667264e-4
allele num: 11156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*190G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+304G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+304G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+304G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6795
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

6-52318059-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318059
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318059
    reference: chr 6
allele count: 1
allele frequency: 9.281603861147207e-5
allele num: 10774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+424T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+424T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*310T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+424T>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

6-52318071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318071
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318071
    reference: chr 6
allele count: 1
allele frequency: 9.288500835965076e-5
allele num: 10766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+436C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+436C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*322C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+436C>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

6-52318113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318113
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318113
    reference: chr 6
allele count: 1
allele frequency: 9.285051067780872e-5
allele num: 10770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+478A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+478A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+478A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*364A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

6-52318116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318116
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318116
    reference: chr 6
allele count: 1
allele frequency: 9.286775631500742e-5
allele num: 10768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*367C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+481C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+481C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+481C>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS

6-52318212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318212
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318212
    reference: chr 6
allele count: 17
allele frequency: 1.579338535860275e-3
allele num: 10764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*463C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+577C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+577C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+577C>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

6-52318224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318224
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318224
    reference: chr 6
allele count: 1
allele frequency: 9.29022668153103e-5
allele num: 10764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+589G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+589G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*475G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+589G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

6-52318254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318254
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318254
    reference: chr 6
allele count: 10
allele frequency: 9.290226681531029e-4
allele num: 10764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.666+619G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*505G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.723+619G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.450+619G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/6-52318288-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318288
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318288
    reference: chr 6
allele count: 1
allele frequency: 9.291953168556031e-5
allele num: 10762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-605C>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*539C>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-605C>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-605C>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

6-52318330-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318330
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318330
    reference: chr 6
allele count: 9
allele frequency: 8.3674228337672e-4
allele num: 10756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-563T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-563T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*581T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-563T>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
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: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-52318373-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318373
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318373
    reference: chr 6
allele count: 2609
allele frequency: 2.428784211506237e-1
allele num: 10742
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-520T>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-520T>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-520T>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*624T>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 388
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 2.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 402
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 9.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.75e1
  variant carriers: 17
num of homozygotes: 360
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

6-52318401-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318401
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318401
    reference: chr 6
allele count: 1
allele frequency: 9.368559115608019e-5
allele num: 10674
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-492C>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*652C>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-492C>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-492C>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-52318401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318401
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318401
    reference: chr 6
allele count: 4
allele frequency: 3.747423646243208e-4
allele num: 10674
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-492C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-492C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*652C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-492C>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/6-52318420-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318420
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318421
    reference: chr 6
allele count: 116
allele frequency: 5.576923076923077e-2
allele num: 2080
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*688dupA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-456dupA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-456dupA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-456dupA
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 2.5e0
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 19
num of homozygotes: 1
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-52318420-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318420
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318422
    reference: chr 6
allele count: 20
allele frequency: 9.615384615384616e-3
allele num: 2080
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-457_451-456dupAA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-457_724-456dupAA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*687_*688dupAA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-457_667-456dupAA
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 6
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/6-52318420-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318420
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318419
    reference: chr 6
allele count: 432
allele frequency: 2.076923076923077e-1
allele num: 2080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-456delA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-456delA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-456delA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*688delA
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 55
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: CA
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-52318420-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318420
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318418
    reference: chr 6
allele count: 151
allele frequency: 7.259615384615385e-2
allele num: 2080
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.25e1
  variant carriers: 9
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 8
  allele frequency: 1.538461538461539e-1
  allele num: 52
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 5.555555555555555e-2
  allele num: 18
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 106
  allele frequency: 7.475317348377997e-2
  allele num: 1418
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 2
  allele frequency: 1.0e-1
  allele num: 20
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: CAA
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-52318420-CAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318420
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318417
    reference: chr 6
allele count: 60
allele frequency: 2.884615384615385e-2
allele num: 2080
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 6
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 34
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 18
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 14
  allele frequency: 2.602230483271376e-2
  allele num: 538
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
reference allele: CAAA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-52318420-CAAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318420
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318416
    reference: chr 6
allele count: 32
allele frequency: 1.538461538461539e-2
allele num: 2080
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.941176470588235e-2
  allele num: 34
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 20
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 18
  allele frequency: 1.269393511988716e-2
  allele num: 1418
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.923076923076923e-2
  allele num: 52
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CAAAA
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-52318462-AGATATGTGTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318462
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318452
    reference: chr 6
allele count: 1
allele frequency: 9.326618168252192e-5
allele num: 10722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: AGATATGTGTT
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

6-52318502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318502
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318502
    reference: chr 6
allele count: 1
allele frequency: 9.338812103100486e-5
allele num: 10708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-391A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*753A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-391A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-391A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

6-52318558-A-AAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318558
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318560
    reference: chr 6
allele count: 4
allele frequency: 3.830683777054204e-4
allele num: 10442
alternate allele: AAT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-325_724-324dupTA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-325_667-324dupTA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*819_*820dupTA
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-325_451-324dupTA
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-52318620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318620
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318620
    reference: chr 6
allele count: 1
allele frequency: 9.245562130177515e-5
allele num: 10816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-273G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*871G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-273G>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-273G>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

6-52318655-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318655
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318655
    reference: chr 6
allele count: 3
allele frequency: 2.716899112479623e-4
allele num: 11042
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-238T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-238T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-238T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*906T>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36
  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
  all individuals: 142
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 78
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

6-52318662-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318662
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318662
    reference: chr 6
allele count: 1
allele frequency: 8.994423457456377e-5
allele num: 11118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-231A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-231A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-231A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*913A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9384
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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: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8386
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
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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
  all individuals: 527
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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
  all individuals: 1072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

6-52318669-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318669
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318669
    reference: chr 6
allele count: 1
allele frequency: 8.939746111210442e-5
allele num: 11186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*920T>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-224T>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-224T>A
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-224T>A
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9987
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-52318701-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318701
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318701
    reference: chr 6
allele count: 2
allele frequency: 1.70299727520436e-4
allele num: 11744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*952A>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-192A>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-192A>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-192A>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

6-52318705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318705
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318705
    reference: chr 6
allele count: 1
allele frequency: 8.444519506840061e-5
allele num: 11842
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-188A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-188A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-188A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*956A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 6.75e1
  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
  all individuals: 1741
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

6-52318725-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318725
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318725
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 12702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-168T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-168T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-168T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*976T>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  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 quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31715
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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
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

6-52318726-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318726
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318726
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 12778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*977T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-167T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-167T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-167T>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

6-52318735-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318735
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318735
    reference: chr 6
allele count: 0
allele frequency: 0.0e0
allele num: 13456
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-158T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-158T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-158T>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*986T>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7315
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

6-52318741-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318741
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318741
    reference: chr 6
allele count: 3
allele frequency: 2.116850127011008e-4
allele num: 14172
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-152G>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*992G>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-152G>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-152G>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11851
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 226
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 6.75e1
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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
  all individuals: 3400
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

6-52318749-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318749
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318750
    reference: chr 6
allele count: 13
allele frequency: 8.994050089940501e-4
allele num: 14454
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-135dupT
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1009dupT
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-135dupT
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-135dupT
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 29444
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17284
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12590
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27557
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 303
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

6-52318749-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318749
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318748
    reference: chr 6
allele count: 11
allele frequency: 7.6103500761035e-4
allele num: 14454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-135delT
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1009delT
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-135delT
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-135delT
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 29444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17284
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27557
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6569
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 12590
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: CT
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

6-52318761-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318761
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318761
    reference: chr 6
allele count: 1
allele frequency: 4.719207173194903e-5
allele num: 21190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-132A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-132A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-132A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1012A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 462
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genotype quality: GenotypeQuality
  all individuals: 1522
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

6-52318763-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318763
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318763
    reference: chr 6
allele count: 1
allele frequency: 4.492766645700422e-5
allele num: 22258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-130T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-130T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1014T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-130T>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18094
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

6-52318768-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318768
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318768
    reference: chr 6
allele count: 1
allele frequency: 3.875668552825362e-5
allele num: 25802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-125C>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-125C>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1019C>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-125C>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

6-52318777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318777
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318777
    reference: chr 6
allele count: 1
allele frequency: 3.031589159037167e-5
allele num: 32986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-116A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-116A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1028A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-116A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35746
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7562
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

6-52318779-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318779
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318779
    reference: chr 6
allele count: 12
allele frequency: 3.474433956801205e-4
allele num: 34538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-114T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-114T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1030T>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-114T>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35880
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6787
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

6-52318781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318781
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318781
    reference: chr 6
allele count: 1
allele frequency: 2.75649153757098e-5
allele num: 36278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-112C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-112C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-112C>T
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1032C>T
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34561
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

6-52318785-ATAGTCTTTCCAGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318785
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318772
    reference: chr 6
allele count: 2
allele frequency: 4.952947003467063e-5
allele num: 40380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: ATAGTCTTTCCAGC
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/6-52318785-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318785
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318785
    reference: chr 6
allele count: 1
allele frequency: 2.476473501733531e-5
allele num: 40380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-108A>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1036A>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-108A>C
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-108A>C
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

6-52318785-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52318785
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 52318785
    reference: chr 6
allele count: 4
allele frequency: 9.905894006934126e-5
allele num: 40380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000360107
  ensembl transcript: ENST00000371068
  gene symbol: EFHC1
  hgvsc: ENST00000371068.5:c.724-108A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000434498
  ensembl transcript: ENST00000480623
  gene symbol: EFHC1
  hgvsc: ENST00000480623.1:c.*1036A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000444521
  ensembl transcript: ENST00000538167
  gene symbol: EFHC1
  hgvsc: ENST00000538167.1:c.667-108A>G
  variant of: http://identifiers.org/hgnc/16406
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000096093
  ensembl protein: ENSP00000416492
  ensembl transcript: ENST00000433625
  gene symbol: EFHC1
  hgvsc: ENST00000433625.2:c.451-108A>G
  variant of: http://identifiers.org/hgnc/16406
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4800
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34256
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
reference allele: A

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 127
bin: 6.25e1
variant carriers: 124

GenotypeDepth
all individuals: 521
bin: 2.25e1
variant carriers: 116

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 16

GenotypeDepth
all individuals: 358
bin: 5.25e1
variant carriers: 342

GenotypeQuality
all individuals: 1119
bin: 7.5e0
variant carriers: 43

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 11

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 462
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 159
bin: 7.75e1
variant carriers: 20

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 15

GenotypeQuality
all individuals: 90
bin: 8.25e1
variant carriers: 33

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 39

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 464
bin: 6.75e1
variant carriers: 13

GenotypeQuality
all individuals: 155
bin: 7.25e1
variant carriers: 12

GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1361
bin: 6.25e1
variant carriers: 23

GenotypeQuality
all individuals: 2869
bin: 9.75e1
variant carriers: 2840

European (Non-Finnish)
type: Population
allele count: 525
allele frequency: 1.964820359281437e-1
allele num: 2672
num of homozygotes: 58

Other
type: Population
allele count: 26
allele frequency: 2.241379310344828e-1
allele num: 116
num of homozygotes: 2

South Asian
type: Population
allele count: 3080
allele frequency: 4.119850187265918e-1
allele num: 7476
num of homozygotes: 672

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 3.043478260869565e-1
allele num: 92
num of homozygotes: 6

East Asian
type: Population
allele count: 43
allele frequency: 3.257575757575757e-1
allele num: 132
num of homozygotes: 9

African
type: Population
allele count: 76
allele frequency: 4.042553191489361e-1
allele num: 188
num of homozygotes: 16

DP
type: SiteQuality
SIO_000300: 2.01083e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.831e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.109e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

QD
type: SiteQuality
SIO_000300: 1.827e1

GenotypeDepth
all individuals: 33
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 676
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1859
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1106
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3253
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.330490405117271e-4
allele num: 7504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.893e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.806e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.413e0

DP
type: SiteQuality
SIO_000300: 1.67281e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.55e-2

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

GenotypeDepth
all individuals: 0
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 0
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.61e-2

MQ
type: SiteQuality
SIO_000300: 5.74e1

FS
type: SiteQuality
SIO_000300: 1.3244e1

DP
type: SiteQuality
SIO_000300: 1.51213e5

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.236e0

QD
type: SiteQuality
SIO_000300: 1.064e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

GenotypeDepth
all individuals: 526
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7131
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8804
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 993
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4802
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24138
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 205
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4433
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4801
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64934
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.505e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 2.49964e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 1.587e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeDepth
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7129
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2481
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4433
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7382
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
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allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.540025256414205e-5
allele num: 64934
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9910
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele num: 16360
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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MQ
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DP
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
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allele frequency: 1.009896990506968e-4
allele num: 9902
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64908
num of homozygotes: 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
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European (Finnish)
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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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64950
num of homozygotes: 0

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

African
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allele count: 1
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allele num: 9902
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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DP
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SIO_000300: 2.502675e6

FS
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -5.82e-1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

African
type: Population
allele count: 29
allele frequency: 2.924566357402178e-3
allele num: 9916
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64960
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.974e1

InbreedingCoeff
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SIO_000300: 9.1e-3

DP
type: SiteQuality
SIO_000300: 2.503376e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 65118
num of homozygotes: 0

Other
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South Asian
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Latino
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 65338
num of homozygotes: 0

African
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Latino
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

Latino
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African
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allele frequency: 1.0e-4
allele num: 10000
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European (Finnish)
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East Asian
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European (Non-Finnish)
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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

DP
type: SiteQuality
SIO_000300: 2.521785e6

QD
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SIO_000300: 1.308e1

FS
type: SiteQuality
SIO_000300: 1.7238e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
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SIO_000300: 8.94e-1

InbreedingCoeff
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SIO_000300: 2.7e-3

MQRankSum
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SIO_000300: 4.5e-1

ClippingRankSum
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SIO_000300: 8.139999999999999e-1

VQSLOD
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SIO_000300: -1.684e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.518418415378542e-5
allele num: 65858
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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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: 6586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.534836e6

QD
type: SiteQuality
SIO_000300: 1.359e1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -3.0e-4

FS
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SIO_000300: 1.0386e1

ClippingRankSum
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SIO_000300: -1.83e-1

BaseQRankSum
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SIO_000300: 1.29e0

VQSLOD
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SIO_000300: -9.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.37e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.809691975671964e-5
allele num: 10194
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66108
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 frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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MQRankSum
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SIO_000300: 9.05e-1

InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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BaseQRankSum
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SIO_000300: -4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
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SIO_000300: 9.49e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

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

Latino
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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
allele num: 900
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
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FS
type: SiteQuality
SIO_000300: 2.363e0

InbreedingCoeff
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SIO_000300: -2.0e-4

DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.378e1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.395e0

MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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

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

South Asian
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allele frequency: 6.070908207867897e-5
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num of homozygotes: 0

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

Other
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East Asian
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BaseQRankSum
type: SiteQuality
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FS
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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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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 5.656108597285068e-4
allele num: 1768
num of homozygotes: 0

South Asian
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Other
type: Population
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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
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num of homozygotes: 0

European (Finnish)
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East Asian
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Latino
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num of homozygotes: 0

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

Latino
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 2.997002997002997e-4
allele num: 10010
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East Asian
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European (Finnish)
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South Asian
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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VQSLOD
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FS
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8247
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.701837985023826e-4
allele num: 5876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 3.87729e5

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.340000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 2.525252525252525e-3
allele num: 396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.81265e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.498e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.581e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 5

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 1.672862453531598e-2
allele num: 538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.452182442373713e-4
allele num: 4078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.383e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 2.029e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 3.1235e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.0e-3
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 2.490421455938697e-2
allele num: 522
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.666666666666667e-3
allele num: 150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.470355731225296e-4
allele num: 4048
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.572678157962439e-4
allele num: 7774
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.35e-2

DP
type: SiteQuality
SIO_000300: 3.11792e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.695417789757413e-4
allele num: 3710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.9094e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.711e1

VQSLOD
type: SiteQuality
SIO_000300: -1.672e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.94e-1

GenotypeQuality
all individuals: 881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
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GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.326259946949602e-4
allele num: 7540
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.584e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

FS
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.470000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -7.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 2.53624e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.58e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.087e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 7.75e1
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GenotypeQuality
all individuals: 874
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.004807692307692e-4
allele num: 3328
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.59e0

DP
type: SiteQuality
SIO_000300: 2.38014e5

QD
type: SiteQuality
SIO_000300: 1.273e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

FS
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-1

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.272e0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.19e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.76e-1

QD
type: SiteQuality
SIO_000300: 9.57e0

DP
type: SiteQuality
SIO_000300: 2.35097e5

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.331203407880724e-4
allele num: 7512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3278
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.629e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 2.27509e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.471e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 8.064516129032258e-3
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.663825253063399e-4
allele num: 7508
num of homozygotes: 0

African
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allele count: 4
allele frequency: 1.70940170940171e-2
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.190000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.18e1

VQSLOD
type: SiteQuality
SIO_000300: -2.923e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 2.536e0

DP
type: SiteQuality
SIO_000300: 2.167e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.663825253063399e-4
allele num: 7508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: -2.741e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 2.14789e5

FS
type: SiteQuality
SIO_000300: 4.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.41e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.63826998689384e-3
allele num: 3052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.12e-2

DP
type: SiteQuality
SIO_000300: 2.12237e5

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.233e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

FS
type: SiteQuality
SIO_000300: 5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.648e0

QD
type: SiteQuality
SIO_000300: 1.113e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.25e1
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GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.332977872567315e-4
allele num: 7502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.64e0

DP
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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MQ
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SIO_000300: 5.923e1

VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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
allele num: 92
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele count: 0
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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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

South Asian
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allele frequency: 1.332622601279318e-4
allele num: 7504
num of homozygotes: 0

QD
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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DP
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.012e0

MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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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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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele count: 17
allele frequency: 2.264854782840394e-3
allele num: 7506
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Other
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
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East Asian
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allele frequency: 0.0e0
allele num: 132
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.332267519317879e-4
allele num: 7506
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

MQ
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DP
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.332267519317879e-3
allele num: 7506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
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African
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allele frequency: 0.0e0
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East Asian
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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

FS
type: SiteQuality
SIO_000300: 5.34e-1

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

GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

South Asian
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allele frequency: 1.332267519317879e-4
allele num: 7506
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2726
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Latino
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allele frequency: 0.0e0
allele num: 92
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Other
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allele num: 118
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 92
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African
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East Asian
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Other
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South Asian
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allele frequency: 7.993605115907274e-4
allele num: 7506
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2718
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 2141

GenotypeQuality
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GenotypeQuality
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variant carriers: 12

Other
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African
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European (Non-Finnish)
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allele num: 2716
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East Asian
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Latino
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allele frequency: 3.260869565217391e-1
allele num: 92
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European (Finnish)
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allele frequency: NaN
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South Asian
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allele count: 1958
allele frequency: 2.612059765208111e-1
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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allele frequency: NaN
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African
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Other
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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QD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 188
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European (Finnish)
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allele frequency: NaN
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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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Other
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South Asian
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
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MQ
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QD
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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Latino
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African
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allele frequency: 5.882352941176471e-2
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European (Finnish)
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allele frequency: NaN
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East Asian
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allele frequency: 3.846153846153846e-2
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Other
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European (Non-Finnish)
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allele frequency: 8.178438661710037e-2
allele num: 538
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South Asian
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allele frequency: 4.65444287729196e-2
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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FS
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.672862453531598e-2
allele num: 538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 7.757404795486601e-3
allele num: 1418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.099e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 2.0104e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

DP
type: SiteQuality
SIO_000300: 1.42716e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
all individuals: 64
bin: 6.25e1
variant carriers: 26

GenotypeQuality
all individuals: 20
bin: 9.25e1
variant carriers: 10

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 45

African
type: Population
allele count: 8
allele frequency: 2.352941176470588e-1
allele num: 34
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 2.777777777777778e-1
allele num: 18
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 111
allele frequency: 2.063197026022305e-1
allele num: 538
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 2.5e-1
allele num: 52
num of homozygotes: 0

South Asian
type: Population
allele count: 289
allele frequency: 2.038081805359661e-1
allele num: 1418
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 3.0e-1
allele num: 20
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.42716e5

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 2.0104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.099e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

African
type: Population
allele count: 3
allele frequency: 8.823529411764706e-2
allele num: 34
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 5.762081784386617e-2
allele num: 538
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.099e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

QD
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.42716e5

FS
type: SiteQuality
SIO_000300: 2.0104e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

South Asian
type: Population
allele count: 46
allele frequency: 3.244005641748942e-2
allele num: 1418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 2.0104e1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

DP
type: SiteQuality
SIO_000300: 1.42716e5

QD
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.099e-1

Latino
type: Population
allele count: 1
allele frequency: 5.555555555555555e-2
allele num: 18
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.044609665427509e-2
allele num: 538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

DP
type: SiteQuality
SIO_000300: 1.42716e5

QD
type: SiteQuality
SIO_000300: 2.37e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 2.0104e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.099e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.338688085676038e-4
allele num: 7470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.412e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

QD
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.59074e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.772e0

VQSLOD
type: SiteQuality
SIO_000300: -7.943e-1

MQ
type: SiteQuality
SIO_000300: 5.415e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.339764201500536e-4
allele num: 7464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

DP
type: SiteQuality
SIO_000300: 1.58795e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.85e-2

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.124278251306021e-4
allele num: 7274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.779289493575208e-4
allele num: 2646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.03e-2

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 4.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.5406e5

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.334400854016547e-4
allele num: 7494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.126e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.907e0

FS
type: SiteQuality
SIO_000300: 3.561e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

QD
type: SiteQuality
SIO_000300: 7.46e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.61e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.07e-1

DP
type: SiteQuality
SIO_000300: 1.71725e5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2956
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.998933617701946e-4
allele num: 7502
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.627e0

VQSLOD
type: SiteQuality
SIO_000300: -2.346e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.82675e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.3597e1

QD
type: SiteQuality
SIO_000300: 2.013e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2565
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.333688983728994e-4
allele num: 7498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3018
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.8667e5

MQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.848e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 4.351e0

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.41e-2

QD
type: SiteQuality
SIO_000300: 7.83e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.265839320705421e-4
allele num: 3062
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 232
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.095e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.92025e5

MQ
type: SiteQuality
SIO_000300: 5.874e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.71e-2

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.16e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 2.647603918453799e-4
allele num: 7554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3376
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

DP
type: SiteQuality
SIO_000300: 2.35171e5

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.31e-2

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3436
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
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allele frequency: 1.323451561672843e-4
allele num: 7556
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 354
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.42289e5

FS
type: SiteQuality
SIO_000300: 6.437e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.56e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-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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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
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MQ
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MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.359999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 546
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East Asian
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allele frequency: 0.0e0
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.616e1

MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 7704
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4350
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 256
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 666
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 272
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.630000000000001e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.463e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
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allele count: 3
allele frequency: 6.307821698906644e-4
allele num: 4756
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 294
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 326
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 742
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

DP
type: SiteQuality
SIO_000300: 3.53949e5

QD
type: SiteQuality
SIO_000300: 1.265e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 2.538071065989848e-3
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 2
allele frequency: 6.134969325153374e-3
allele num: 326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
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South Asian
type: Population
allele count: 3
allele frequency: 3.901170351105332e-4
allele num: 7690
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.012820512820513e-4
allele num: 4992
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 1.282051282051282e-2
allele num: 156
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.85e-2

FS
type: SiteQuality
SIO_000300: 4.813e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.3202e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.602564102564103e-3
allele num: 4992
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.067484662576687e-3
allele num: 326
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.538071065989848e-3
allele num: 788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
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VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 4.813e0

DP
type: SiteQuality
SIO_000300: 4.3202e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 1514
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 748
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.152604887044721e-4
allele num: 8676
num of homozygotes: 0

South Asian
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allele num: 8542
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.14446e5

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1586
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
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allele frequency: 1.153668666359022e-4
allele num: 8668
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.14e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1922
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1274
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 8990
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Latino
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allele frequency: 9.191176470588235e-4
allele num: 1088
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.82e-2

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 15140
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South Asian
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allele frequency: 0.0e0
allele num: 9622
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1998
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Other
type: Population
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allele frequency: 0.0e0
allele num: 310
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Latino
type: Population
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East Asian
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African
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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allele frequency: 6.514657980456026e-3
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 322
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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FS
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 3.790750568612585e-4
allele num: 2638
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African
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South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.241639584862145e-5
allele num: 19078
num of homozygotes: 0

Other
type: Population
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MQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -6.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

FS
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 7.33042e5

GenotypeQuality
all individuals: 823
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 720
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 3.08641975308642e-4
allele num: 3240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2638
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.512e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

DP
type: SiteQuality
SIO_000300: 7.33042e5