http://identifiers.org/exac.variant/20-31973479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973479
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973479
    reference: chr 20
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.853G>T
  hgvsp: ENSP00000350558.4:p.Glu285Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.280G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.504G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.627G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.506G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.224G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.853G>T
  hgvsp: ENSP00000217372.2:p.Glu285Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.853G>T
  hgvsp: ENSP00000439034.1:p.Glu285Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.280G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.583G>T
  hgvsp: ENSP00000476857.1:p.Glu195Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8359G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-12976G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-5982G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.853G>T
  hgvsp: ENSP00000341840.5:p.Glu285Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1650G>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu285Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

20-31973483-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973483
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973483
    reference: chr 20
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.849A>G
  hgvsp: ENST00000339269.5:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.849A>G
  hgvsp: ENST00000357886.4:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.502A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.579A>G
  hgvsp: ENST00000473997.1:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.276A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.220A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.849A>G
  hgvsp: ENST00000544843.1:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.276A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.849A>G
  hgvsp: ENST00000346416.2:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1646A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.500A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.623A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-12980A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-5986A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8355A>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu283Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

20-31973489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973489
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973489
    reference: chr 20
allele count: 6
allele frequency: 4.944701752072654e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.843C>T
  hgvsp: ENST00000346416.2:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.843C>T
  hgvsp: ENST00000339269.5:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1640C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.573C>T
  hgvsp: ENST00000473997.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.843C>T
  hgvsp: ENST00000544843.1:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8349C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.270C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.214C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.617C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.496C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.843C>T
  hgvsp: ENST00000357886.4:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-5992C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.270C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-12986C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.494C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser281Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

20-31973492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973492
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973492
    reference: chr 20
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.840C>T
  hgvsp: ENST00000339269.5:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8346C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.267C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.840C>T
  hgvsp: ENST00000544843.1:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.614C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.211C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1637C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.570C>T
  hgvsp: ENST00000473997.1:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.840C>T
  hgvsp: ENST00000357886.4:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-12989C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-5995C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.491C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.267C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.493C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.840C>T
  hgvsp: ENST00000346416.2:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala280Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-31973496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973496
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973496
    reference: chr 20
allele count: 2
allele frequency: 1.648179585647652e-5
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.836T>C
  hgvsp: ENSP00000350558.4:p.Ile279Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.836T>C
  hgvsp: ENSP00000439034.1:p.Ile279Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.263T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.489T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.207T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.610T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.566T>C
  hgvsp: ENSP00000476857.1:p.Ile189Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.263T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.487T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-12993T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.836T>C
  hgvsp: ENSP00000341840.5:p.Ile279Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-5999T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1633T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.836T>C
  hgvsp: ENSP00000217372.2:p.Ile279Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8342T>C
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile279Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-31973502-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973502
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973502
    reference: chr 20
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.830G>T
  hgvsp: ENSP00000217372.2:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.560G>T
  hgvsp: ENSP00000476857.1:p.Arg187Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.481G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.604G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.830G>T
  hgvsp: ENSP00000439034.1:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1627G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.201G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-12999G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.257G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.830G>T
  hgvsp: ENSP00000350558.4:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.830G>T
  hgvsp: ENSP00000341840.5:p.Arg277Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.257G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8336G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.483G>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6005G>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg277Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

20-31973502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973502
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973502
    reference: chr 20
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.830G>A
  hgvsp: ENSP00000341840.5:p.Arg277Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.830G>A
  hgvsp: ENSP00000217372.2:p.Arg277Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.830G>A
  hgvsp: ENSP00000439034.1:p.Arg277Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1627G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.481G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.830G>A
  hgvsp: ENSP00000350558.4:p.Arg277Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.604G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6005G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8336G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.560G>A
  hgvsp: ENSP00000476857.1:p.Arg187Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.201G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.483G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.257G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-12999G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.257G>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg277Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

20-31973503-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973503
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973503
    reference: chr 20
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6006C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13000C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1626C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.829C>A
  hgvsp: ENST00000357886.4:c.829C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.829C>A
  hgvsp: ENST00000346416.2:c.829C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.256C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8335C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.480C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.559C>A
  hgvsp: ENST00000473997.1:c.559C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.829C>A
  hgvsp: ENST00000339269.5:c.829C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.256C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.482C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.603C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.200C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.829C>A
  hgvsp: ENST00000544843.1:c.829C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg277Arg
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-31973507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973507
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973507
    reference: chr 20
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.476G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.599G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.196G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.825G>A
  hgvsp: ENST00000357886.4:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.825G>A
  hgvsp: ENST00000339269.5:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.825G>A
  hgvsp: ENST00000544843.1:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.825G>A
  hgvsp: ENST00000346416.2:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13004G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.252G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.252G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6010G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.478G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.555G>A
  hgvsp: ENST00000473997.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8331G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1622G>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg275Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

20-31973514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973514
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973514
    reference: chr 20
allele count: 5
allele frequency: 4.121196135966503e-5
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.548G>A
  hgvsp: ENSP00000476857.1:p.Arg183Lys
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.189G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13011G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.469G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.818G>A
  hgvsp: ENSP00000350558.4:p.Arg273Lys
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.818G>A
  hgvsp: ENSP00000217372.2:p.Arg273Lys
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6017G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.245G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.245G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.818G>A
  hgvsp: ENSP00000341840.5:p.Arg273Lys
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.818G>A
  hgvsp: ENSP00000439034.1:p.Arg273Lys
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.471G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1615G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8324G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.592G>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg273Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

20-31973516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973516
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973516
    reference: chr 20
allele count: 262
allele frequency: 2.159720390398312e-3
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.816C>T
  hgvsp: ENST00000357886.4:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.187C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.467C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.546C>T
  hgvsp: ENST00000473997.1:c.546C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.816C>T
  hgvsp: ENST00000339269.5:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8322C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.469C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.243C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.816C>T
  hgvsp: ENST00000346416.2:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1613C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.816C>T
  hgvsp: ENST00000544843.1:c.816C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6019C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13013C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.243C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.590C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16488
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.Gly272Gly
num of homozygotes: 5
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

20-31973520-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973520
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973521
    reference: chr 20
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.585dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.811dupC
  hgvsp: ENSP00000439034.1:p.Arg271ProfsTer21
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.811dupC
  hgvsp: ENSP00000350558.4:p.Arg271ProfsTer21
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13018dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.182dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.462dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.238dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6024dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.811dupC
  hgvsp: ENSP00000217372.2:p.Arg271ProfsTer21
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1608dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.464dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.541dupC
  hgvsp: ENSP00000476857.1:p.Arg181ProfsTer21
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.811dupC
  hgvsp: ENSP00000341840.5:p.Arg271ProfsTer21
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8317dupC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.238dupC
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg271ProfsTer21
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-31973520-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973520
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973520
    reference: chr 20
allele count: 2
allele frequency: 1.648804616652927e-5
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13017G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.812G>A
  hgvsp: ENSP00000350558.4:p.Arg271Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6023G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1609G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.465G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.239G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.239G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.812G>A
  hgvsp: ENSP00000217372.2:p.Arg271Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.812G>A
  hgvsp: ENSP00000439034.1:p.Arg271Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.542G>A
  hgvsp: ENSP00000476857.1:p.Arg181Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.183G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.586G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.463G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.812G>A
  hgvsp: ENSP00000341840.5:p.Arg271Gln
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8318G>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg271Gln
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-31973521-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973521
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973521
    reference: chr 20
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.182C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.464C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.811C>T
  hgvsp: ENSP00000350558.4:p.Arg271Trp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.541C>T
  hgvsp: ENSP00000476857.1:p.Arg181Trp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6024C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.585C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13018C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.238C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.238C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.811C>T
  hgvsp: ENSP00000439034.1:p.Arg271Trp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1608C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.811C>T
  hgvsp: ENSP00000341840.5:p.Arg271Trp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.811C>T
  hgvsp: ENSP00000217372.2:p.Arg271Trp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8317C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.462C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg271Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

20-31973521-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973521
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973521
    reference: chr 20
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.238C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.585C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.811C>G
  hgvsp: ENSP00000341840.5:p.Arg271Gly
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1608C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.182C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.462C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8317C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.811C>G
  hgvsp: ENSP00000350558.4:p.Arg271Gly
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.541C>G
  hgvsp: ENSP00000476857.1:p.Arg181Gly
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13018C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6024C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.811C>G
  hgvsp: ENSP00000217372.2:p.Arg271Gly
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.811C>G
  hgvsp: ENSP00000439034.1:p.Arg271Gly
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.464C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.238C>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg271Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

20-31973522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973522
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973522
    reference: chr 20
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.810C>T
  hgvsp: ENST00000357886.4:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.181C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.810C>T
  hgvsp: ENST00000346416.2:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.584C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.237C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8316C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.810C>T
  hgvsp: ENST00000544843.1:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.461C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.540C>T
  hgvsp: ENST00000473997.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.237C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.810C>T
  hgvsp: ENST00000339269.5:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13019C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1607C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6025C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.463C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr270Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

20-31973540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973540
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973540
    reference: chr 20
allele count: 3
allele frequency: 2.479092982514131e-5
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.792C>T
  hgvsp: ENST00000346416.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.445C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8298C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.792C>T
  hgvsp: ENST00000339269.5:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13037C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.792C>T
  hgvsp: ENST00000357886.4:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.219C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.522C>T
  hgvsp: ENST00000473997.1:c.522C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.566C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.443C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.163C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.219C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6043C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.792C>T
  hgvsp: ENST00000544843.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1589C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr264Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/20-31973542-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973542
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973542
    reference: chr 20
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.217T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.790T>G
  hgvsp: ENSP00000439034.1:p.Tyr264Asp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1587T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.217T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.161T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.790T>G
  hgvsp: ENSP00000217372.2:p.Tyr264Asp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.564T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6045T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.441T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.443T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.790T>G
  hgvsp: ENSP00000350558.4:p.Tyr264Asp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8296T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.790T>G
  hgvsp: ENSP00000341840.5:p.Tyr264Asp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.520T>G
  hgvsp: ENSP00000476857.1:p.Tyr174Asp
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13039T>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr264Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

20-31973543-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973543
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973543
    reference: chr 20
allele count: 9
allele frequency: 7.44355305599206e-5
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.216C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.519C>G
  hgvsp: ENSP00000476857.1:p.Ser173Arg
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.216C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.563C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.789C>G
  hgvsp: ENSP00000217372.2:p.Ser263Arg
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13040C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.160C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.789C>G
  hgvsp: ENSP00000439034.1:p.Ser263Arg
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.442C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8295C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1586C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.789C>G
  hgvsp: ENSP00000350558.4:p.Ser263Arg
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.440C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6046C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.789C>G
  hgvsp: ENSP00000341840.5:p.Ser263Arg
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser263Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

20-31973549-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973549
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973547
    reference: chr 20
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.152_153delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.511_512delAT
  hgvsp: ENSP00000476857.1:p.Met171ValfsTer2
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13048_78-13047delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8287_87+8288delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6054_52-6053delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.781_782delAT
  hgvsp: ENSP00000350558.4:p.Met261ValfsTer2
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.781_782delAT
  hgvsp: ENSP00000341840.5:p.Met261ValfsTer2
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.781_782delAT
  hgvsp: ENSP00000439034.1:p.Met261ValfsTer2
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.208_209delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1578_211+1579delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.208_209delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.781_782delAT
  hgvsp: ENSP00000217372.2:p.Met261ValfsTer2
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.555_556delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.432_433delAT
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.434_435delAT
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met261ValfsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: CAT
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

20-31973550-ATGTTGTCACAGCCTCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973550
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973534
    reference: chr 20
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsp: ENSP00000341840.5:p.Arg256CysfsTer23
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsp: ENSP00000476857.1:p.Arg166CysfsTer23
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsp: ENSP00000439034.1:p.Arg256CysfsTer23
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsp: ENSP00000217372.2:p.Arg256CysfsTer23
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsp: ENSP00000350558.4:p.Arg256CysfsTer23
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg256CysfsTer23
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: ATGTTGTCACAGCCTCG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

20-31973551-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973551
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973551
    reference: chr 20
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.208A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8287A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.434A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.781A>C
  hgvsp: ENSP00000341840.5:p.Met261Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6054A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.555A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.511A>C
  hgvsp: ENSP00000476857.1:p.Met171Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.781A>C
  hgvsp: ENSP00000217372.2:p.Met261Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.781A>C
  hgvsp: ENSP00000439034.1:p.Met261Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.208A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1578A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13048A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.152A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.781A>C
  hgvsp: ENSP00000350558.4:p.Met261Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.432A>C
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met261Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

20-31973566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973566
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973566
    reference: chr 20
allele count: 3
allele frequency: 2.516145265453326e-5
allele num: 119230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.766C>T
  hgvsp: ENSP00000439034.1:p.Arg256Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.766C>T
  hgvsp: ENSP00000217372.2:p.Arg256Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1563C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.496C>T
  hgvsp: ENSP00000476857.1:p.Arg166Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.193C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.540C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.193C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.417C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.766C>T
  hgvsp: ENSP00000350558.4:p.Arg256Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.766C>T
  hgvsp: ENSP00000341840.5:p.Arg256Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6069C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.419C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8272C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.137C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13063C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg256Ter
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

20-31973568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973568
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973568
    reference: chr 20
allele count: 10
allele frequency: 8.397010664203544e-5
allele num: 119090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13065T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8270T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.415T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.764T>C
  hgvsp: ENSP00000350558.4:p.Met255Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.538T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.764T>C
  hgvsp: ENSP00000217372.2:p.Met255Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.135T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.764T>C
  hgvsp: ENSP00000341840.5:p.Met255Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.417T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.494T>C
  hgvsp: ENSP00000476857.1:p.Met165Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.764T>C
  hgvsp: ENSP00000439034.1:p.Met255Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.191T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1561T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.191T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6071T>C
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met255Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

20-31973572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973572
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973572
    reference: chr 20
allele count: 83
allele frequency: 6.988532071468265e-4
allele num: 118766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.187A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.131A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.413A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.411A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.760A>G
  hgvsp: ENSP00000350558.4:p.Ile254Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13069A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6075A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.760A>G
  hgvsp: ENSP00000217372.2:p.Ile254Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.490A>G
  hgvsp: ENSP00000476857.1:p.Ile164Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.534A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.760A>G
  hgvsp: ENSP00000341840.5:p.Ile254Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.760A>G
  hgvsp: ENSP00000439034.1:p.Ile254Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1557A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.187A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8266A>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile254Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/20-31973586-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973586
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973586
    reference: chr 20
allele count: 2
allele frequency: 1.700159815022612e-5
allele num: 117636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.756-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.486-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8252T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.756-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13083T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.409-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.183-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6089T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.530-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.756-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.407-10T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1543T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.756-10T>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-31973587-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973587
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973587
    reference: chr 20
allele count: 1
allele frequency: 8.503979862575686e-6
allele num: 117592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1542T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.756-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13084T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.183-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.486-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6090T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.409-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.756-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8251T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.530-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.756-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.407-11T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.756-11T>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

20-31973589-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973589
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973589
    reference: chr 20
allele count: 2
allele frequency: 1.701866948042002e-5
allele num: 117518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.183-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.756-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.756-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.407-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13086C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.409-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.756-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.486-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.530-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.756-13C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8249C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6092C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1540C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-31973596-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973596
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973596
    reference: chr 20
allele count: 1
allele frequency: 8.559738414394057e-6
allele num: 116826
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.756-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.756-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1533T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.756-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.530-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.183-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13093T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6099T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.409-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.756-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.486-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.407-20T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8242T>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-20T>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

20-31973598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973598
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973598
    reference: chr 20
allele count: 1
allele frequency: 8.575005573753624e-6
allele num: 116618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6101G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.756-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8240G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.409-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.486-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.530-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.407-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.756-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1531G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.756-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13095G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.183-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.756-22G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-22G>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

20-31973600-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973600
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973600
    reference: chr 20
allele count: 1
allele frequency: 8.598304414369486e-6
allele num: 116302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.756-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.409-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1529A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.407-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8238A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13097A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.530-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6103A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.183-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.756-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.486-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.756-24A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.756-24A>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

20-31973611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973611
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973611
    reference: chr 20
allele count: 1
allele frequency: 8.68357068426537e-6
allele num: 115160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6114C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.530-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.407-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.756-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8227C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1518C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13108C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.756-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.409-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.756-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.183-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.486-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.756-35C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-35C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

20-31973611-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31973611
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31973611
    reference: chr 20
allele count: 1
allele frequency: 8.68357068426537e-6
allele num: 115160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+8227C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-6114C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.756-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.409-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.183-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.756-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.530-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.78-13108C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.486-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.756-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+1518C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.756-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-35C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.407-35C>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-31975080-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975080
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975080
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 76774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1504A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7583A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1504A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6758A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14154A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+49A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+49A>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 18603
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

20-31975080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975080
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975080
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 76774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1504A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7583A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14154A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6758A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1504A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+49A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+49A>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

20-31975080-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975080
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975080
    reference: chr 20
allele count: 72
allele frequency: 9.37817490296194e-4
allele num: 76774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7583A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6758A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14154A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1504A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1504A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+49A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+49A>C
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 7.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18603
  bin: 1.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

20-31975081-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975081
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975081
    reference: chr 20
allele count: 2
allele frequency: 1.998281477928981e-5
allele num: 100086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14153C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7584C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6757C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1505C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+48C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1505C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+48C>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-31975082-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975082
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975082
    reference: chr 20
allele count: 1
allele frequency: 1.033826813332231e-5
allele num: 96728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14152A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1506A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7585A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1506A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+47A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6756A>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

20-31975082-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975082
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975082
    reference: chr 20
allele count: 14
allele frequency: 1.447357538665123e-4
allele num: 96728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7585A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1506A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14152A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1506A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+47A>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6756A>C
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17877
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

20-31975090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975090
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975090
    reference: chr 20
allele count: 81050
allele frequency: 6.94373050957815e-1
allele num: 116724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6748C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1514C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14144C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7593C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+39C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1514C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+39C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 814
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 1.75e1
  variant carriers: 8640
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 1.25e1
  variant carriers: 3715
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 306
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 3.25e1
  variant carriers: 7401
genotype depth: GenotypeDepth
  all individuals: 14961
  bin: 2.25e1
  variant carriers: 11978
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.75e1
  variant carriers: 4461
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 4.25e1
  variant carriers: 2374
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.75e1
  variant carriers: 1391
genotype quality: GenotypeQuality
num of homozygotes: 28041
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

20-31975099-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975099
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975099
    reference: chr 20
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6739A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7602A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14135A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+30A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1523A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1523A>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

20-31975117-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975117
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975117
    reference: chr 20
allele count: 3
allele frequency: 2.486572508454347e-5
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1541C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1541C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6721C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14117C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7620C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+12C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+12C>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

20-31975118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975118
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975118
    reference: chr 20
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1542G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14116G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6720G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1542G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7621G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+11G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+11G>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum

20-31975121-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975121
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975121
    reference: chr 20
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6717A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14113A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7624A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1545A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+8A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1545A>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+8A>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.755+8A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

20-31975122-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975122
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975122
    reference: chr 20
allele count: 2
allele frequency: 1.655519502019734e-5
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1546C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1546C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+7C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7625C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14112C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6716C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+7C>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.755+7C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

20-31975127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975127
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975127
    reference: chr 20
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.211+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1551T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.755+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.406+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6711T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.182+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.529+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.485+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.755+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14107T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.755+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7630T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.755+2T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1551T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.408+2T>C
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.755+2T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-31975130-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975130
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975130
    reference: chr 20
allele count: 2
allele frequency: 1.653521173338625e-5
allele num: 120954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.754G>C
  hgvsp: ENSP00000350558.4:p.Val252Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.754G>C
  hgvsp: ENSP00000439034.1:p.Val252Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.210G>C
  hgvsp: ENSP00000409474.1:p.Val71Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.754G>C
  hgvsp: ENSP00000217372.2:p.Val252Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.405G>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1554G>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.528G>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.754G>C
  hgvsp: ENSP00000341840.5:p.Val252Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.484G>C
  hgvsp: ENSP00000476857.1:p.Val162Leu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14104G>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.181G>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7633G>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.407G>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6708G>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1554G>C
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4783
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val252Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

20-31975132-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975132
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975132
    reference: chr 20
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.405T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.526T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.752T>C
  hgvsp: ENSP00000350558.4:p.Phe251Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.482T>C
  hgvsp: ENSP00000476857.1:p.Phe161Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.752T>C
  hgvsp: ENSP00000341840.5:p.Phe251Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7635T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.179T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.208T>C
  hgvsp: ENSP00000409474.1:p.Phe70Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.403T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14102T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1556T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6706T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.752T>C
  hgvsp: ENSP00000439034.1:p.Phe251Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1556T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.752T>C
  hgvsp: ENSP00000217372.2:p.Phe251Ser
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe251Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

20-31975140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975140
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975140
    reference: chr 20
allele count: 10
allele frequency: 8.259820927082301e-5
allele num: 121068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.395G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.744G>A
  hgvsp: ENST00000346416.2:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.744G>A
  hgvsp: ENST00000339269.5:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14094G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.744G>A
  hgvsp: ENST00000357886.4:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1564G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.171G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6698G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.200G>A
  hgvsp: ENST00000427097.1:c.200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7643G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1564G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.744G>A
  hgvsp: ENST00000544843.1:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.397G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.518G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.474G>A
  hgvsp: ENST00000473997.1:c.474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr248Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

20-31975141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975141
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975141
    reference: chr 20
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1565C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7644C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.743C>T
  hgvsp: ENSP00000217372.2:p.Thr248Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.396C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6697C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.743C>T
  hgvsp: ENSP00000341840.5:p.Thr248Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1565C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.743C>T
  hgvsp: ENSP00000439034.1:p.Thr248Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.517C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.170C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14093C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.743C>T
  hgvsp: ENSP00000350558.4:p.Thr248Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.199C>T
  hgvsp: ENSP00000409474.1:p.Thr67Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.394C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.473C>T
  hgvsp: ENSP00000476857.1:p.Thr158Met
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr248Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

20-31975143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975143
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975143
    reference: chr 20
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14091C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1567C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.741C>T
  hgvsp: ENST00000339269.5:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7646C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.392C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1567C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.197C>T
  hgvsp: ENST00000427097.1:c.197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.394C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.168C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.741C>T
  hgvsp: ENST00000544843.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.515C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.741C>T
  hgvsp: ENST00000357886.4:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.471C>T
  hgvsp: ENST00000473997.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6695C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.741C>T
  hgvsp: ENST00000346416.2:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala247Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

20-31975143-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975143
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975143
    reference: chr 20
allele count: 1
allele frequency: 8.258183860205463e-6
allele num: 121092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14091C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.741C>G
  hgvsp: ENST00000346416.2:c.741C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.197C>G
  hgvsp: ENST00000427097.1:c.197C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.394C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.741C>G
  hgvsp: ENST00000339269.5:c.741C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.471C>G
  hgvsp: ENST00000473997.1:c.471C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.741C>G
  hgvsp: ENST00000357886.4:c.741C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.741C>G
  hgvsp: ENST00000544843.1:c.741C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6695C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1567C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.515C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7646C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.392C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.168C>G
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1567C>G
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala247Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

20-31975150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975150
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975150
    reference: chr 20
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7653C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.385C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.734C>T
  hgvsp: ENSP00000341840.5:p.Ala245Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.464C>T
  hgvsp: ENSP00000476857.1:p.Ala155Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.190C>T
  hgvsp: ENSP00000409474.1:p.Ala64Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.734C>T
  hgvsp: ENSP00000439034.1:p.Ala245Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1574C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.508C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14084C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.734C>T
  hgvsp: ENSP00000217372.2:p.Ala245Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.734C>T
  hgvsp: ENSP00000350558.4:p.Ala245Val
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1574C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.387C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.161C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6688C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala245Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

20-31975157-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975157
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975157
    reference: chr 20
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7660A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.154A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.380A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.727A>T
  hgvsp: ENSP00000341840.5:p.Thr243Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1581A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.501A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1581A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.727A>T
  hgvsp: ENSP00000350558.4:p.Thr243Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.183A>T
  hgvsp: ENSP00000409474.1:p.Thr62Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.378A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.727A>T
  hgvsp: ENSP00000439034.1:p.Thr243Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.727A>T
  hgvsp: ENSP00000217372.2:p.Thr243Ser
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14077A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6681A>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.457A>T
  hgvsp: ENSP00000476857.1:p.Thr153Ser
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr243Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

20-31975160-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975160
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975160
    reference: chr 20
allele count: 5
allele frequency: 4.126365827088766e-5
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.375C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.724C>T
  hgvsp: ENSP00000217372.2:p.Gln242Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.724C>T
  hgvsp: ENSP00000350558.4:p.Gln242Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.498C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.724C>T
  hgvsp: ENSP00000439034.1:p.Gln242Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14074C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.377C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7663C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.724C>T
  hgvsp: ENSP00000341840.5:p.Gln242Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.151C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.454C>T
  hgvsp: ENSP00000476857.1:p.Gln152Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1584C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.180C>T
  hgvsp: ENSP00000409474.1:p.Gln61Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6678C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1584C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln242Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

20-31975161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975161
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975161
    reference: chr 20
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.723C>T
  hgvsp: ENST00000357886.4:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.723C>T
  hgvsp: ENST00000544843.1:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.723C>T
  hgvsp: ENST00000346416.2:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.723C>T
  hgvsp: ENST00000339269.5:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6677C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.179C>T
  hgvsp: ENST00000427097.1:c.179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.497C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.150C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1585C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14073C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1585C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.453C>T
  hgvsp: ENST00000473997.1:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.376C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.374C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7664C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val241Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

20-31975164-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975164
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975163
    reference: chr 20
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.719delC
  hgvsp: ENSP00000217372.2:p.Pro240GlnfsTer44
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.449delC
  hgvsp: ENSP00000476857.1:p.Pro150GlnfsTer44
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14069delC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6673delC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.493delC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.175delC
  hgvsp: ENSP00000409474.1:p.Pro59GlnfsTer22
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.146delC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1589delC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.372delC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.719delC
  hgvsp: ENSP00000341840.5:p.Pro240GlnfsTer44
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.719delC
  hgvsp: ENSP00000350558.4:p.Pro240GlnfsTer44
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.719delC
  hgvsp: ENSP00000439034.1:p.Pro240GlnfsTer44
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.370delC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1589delC
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7668delC
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro240GlnfsTer44
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: TG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-31975168-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975168
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975168
    reference: chr 20
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.716T>C
  hgvsp: ENSP00000350558.4:p.Met239Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.446T>C
  hgvsp: ENSP00000476857.1:p.Met149Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.143T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14066T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7671T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.716T>C
  hgvsp: ENSP00000439034.1:p.Met239Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1592T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.367T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.490T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.172T>C
  hgvsp: ENSP00000409474.1:p.Met58Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.716T>C
  hgvsp: ENSP00000217372.2:p.Met239Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1592T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.716T>C
  hgvsp: ENSP00000341840.5:p.Met239Thr
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6670T>C
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.369T>C
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met239Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-31975188-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975188
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975188
    reference: chr 20
allele count: 114
allele frequency: 9.403923250787785e-4
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.123C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.696C>A
  hgvsp: ENSP00000341840.5:p.Asp232Glu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.696C>A
  hgvsp: ENSP00000350558.4:p.Asp232Glu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.152C>A
  hgvsp: ENSP00000409474.1:p.Asp51Glu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.426C>A
  hgvsp: ENSP00000476857.1:p.Asp142Glu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.349C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.347C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.696C>A
  hgvsp: ENSP00000439034.1:p.Asp232Glu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.696C>A
  hgvsp: ENSP00000217372.2:p.Asp232Glu
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7691C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1612C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6650C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.470C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14046C>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1612C>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp232Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

20-31975193-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975193
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975193
    reference: chr 20
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.691C>T
  hgvsp: ENST00000357886.4:c.691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1617C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6645C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.147C>T
  hgvsp: ENST00000427097.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.691C>T
  hgvsp: ENST00000544843.1:c.691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.465C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.118C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.421C>T
  hgvsp: ENST00000473997.1:c.421C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1617C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.691C>T
  hgvsp: ENST00000346416.2:c.691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14041C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7696C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.344C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.691C>T
  hgvsp: ENST00000339269.5:c.691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.342C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu231Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

20-31975197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975197
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975197
    reference: chr 20
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.143C>T
  hgvsp: ENST00000427097.1:c.143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.687C>T
  hgvsp: ENST00000544843.1:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.338C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.114C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.687C>T
  hgvsp: ENST00000339269.5:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1621C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.687C>T
  hgvsp: ENST00000357886.4:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.417C>T
  hgvsp: ENST00000473997.1:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14037C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6641C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1621C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.687C>T
  hgvsp: ENST00000346416.2:c.687C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.340C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7700C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.461C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu229Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

20-31975205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975205
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975205
    reference: chr 20
allele count: 2
allele frequency: 1.649783878311941e-5
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.409G>A
  hgvsp: ENSP00000476857.1:p.Val137Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.135G>A
  hgvsp: ENSP00000409474.1:p.Val46Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.332G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.679G>A
  hgvsp: ENSP00000341840.5:p.Val227Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.679G>A
  hgvsp: ENSP00000350558.4:p.Val227Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.453G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1629G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6633G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.679G>A
  hgvsp: ENSP00000439034.1:p.Val227Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.330G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.106G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14029G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.679G>A
  hgvsp: ENSP00000217372.2:p.Val227Met
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7708G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1629G>A
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val227Met
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

20-31975206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975206
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975206
    reference: chr 20
allele count: 27
allele frequency: 2.22720823572112e-4
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6632C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.678C>T
  hgvsp: ENST00000544843.1:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.678C>T
  hgvsp: ENST00000357886.4:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.331C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.452C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1630C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.105C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.134C>T
  hgvsp: ENST00000427097.1:c.134C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.329C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14028C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.408C>T
  hgvsp: ENST00000473997.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.678C>T
  hgvsp: ENST00000339269.5:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.678C>T
  hgvsp: ENST00000346416.2:c.678C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7709C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1630C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18362
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn226Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

20-31975217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975217
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975217
    reference: chr 20
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000496381
  gene symbol: CDK5RAP1
  hgvsc: ENST00000496381.1:n.52-7720C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000477105
  gene symbol: CDK5RAP1
  hgvsc: ENST00000477105.1:n.441C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000341840
  ensembl transcript: ENST00000339269
  gene symbol: CDK5RAP1
  hgvsc: ENST00000339269.5:c.667C>T
  hgvsp: ENSP00000341840.5:p.Gln223Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000217372
  ensembl transcript: ENST00000346416
  gene symbol: CDK5RAP1
  hgvsc: ENST00000346416.2:c.667C>T
  hgvsp: ENSP00000217372.2:p.Gln223Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000350558
  ensembl transcript: ENST00000357886
  gene symbol: CDK5RAP1
  hgvsc: ENST00000357886.4:c.667C>T
  hgvsp: ENSP00000350558.4:p.Gln223Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000481964
  gene symbol: CDK5RAP1
  hgvsc: ENST00000481964.1:n.87+6621C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000498525
  gene symbol: CDK5RAP1
  hgvsc: ENST00000498525.1:n.94C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000460043
  gene symbol: CDK5RAP1
  hgvsc: ENST00000460043.1:n.183-1641C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000482967
  gene symbol: CDK5RAP1
  hgvsc: ENST00000482967.1:n.77+14017C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000488723
  gene symbol: CDK5RAP1
  hgvsc: ENST00000488723.1:n.320C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1641C>T
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000476857
  ensembl transcript: ENST00000473997
  gene symbol: CDK5RAP1
  hgvsc: ENST00000473997.1:c.397C>T
  hgvsp: ENSP00000476857.1:p.Gln133Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.123C>T
  hgvsp: ENSP00000409474.1:p.Gln42Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000439034
  ensembl transcript: ENST00000544843
  gene symbol: CDK5RAP1
  hgvsc: ENST00000544843.1:c.667C>T
  hgvsp: ENSP00000439034.1:p.Gln223Ter
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000461356
  gene symbol: CDK5RAP1
  hgvsc: ENST00000461356.1:n.318C>T
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln223Ter
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-31975222-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31975222
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 31975222
    reference: chr 20
allele count: 4
allele frequency: 3.299731071917638e-5
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101391
  ensembl transcript: ENST00000471264
  gene symbol: CDK5RAP1
  hgvsc: ENST00000471264.1:n.127-1646G>A
  variant of: http://identifiers.org/hgnc/15880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101391
  ensembl protein: ENSP00000409474
  ensembl transcript: ENST00000427097
  gene symbol: CDK5RAP1
  hgvsc: ENST00000427097.1:c.118G>A
  hgvsp: ENSP00000409474.1:p.Gly40Asp
  variant of: http://identifiers.org/hgnc/15880
canonical: true
consequence: missense
filter: PASS
hgvs: p.Gly221Asp
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 4427
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1323
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5210
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23087
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7811
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11317
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.971375e6

VQSLOD
type: SiteQuality
SIO_000300: -9.55e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.838e0

FS
type: SiteQuality
SIO_000300: 8.773e0

QD
type: SiteQuality
SIO_000300: 1.309e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

GenotypeDepth
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4427
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1322
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7476
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11316
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23089
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5207
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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MQ
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QD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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MQ
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DP
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QD
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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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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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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East Asian
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MQRankSum
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VQSLOD
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QD
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DP
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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DP
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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Latino
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FS
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DP
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QD
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MQ
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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European (Finnish)
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VQSLOD
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ClippingRankSum
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QD
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MQ
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Other
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FS
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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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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African
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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FS
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MQ
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QD
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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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East Asian
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South Asian
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Latino
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European (Finnish)
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African
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Other
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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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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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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European (Finnish)
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Other
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MQ
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FS
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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South Asian
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African
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European (Finnish)
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MQRankSum
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VQSLOD
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FS
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DP
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QD
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MQ
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InbreedingCoeff
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European (Non-Finnish)
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African
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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QD
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DP
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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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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European (Non-Finnish)
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Latino
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South Asian
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African
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European (Finnish)
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East Asian
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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BaseQRankSum
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FS
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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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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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European (Non-Finnish)
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allele num: 66668
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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East Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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DP
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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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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European (Finnish)
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num of homozygotes: 0

Other
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African
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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QD
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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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African
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European (Non-Finnish)
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Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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QD
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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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European (Finnish)
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Latino
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Other
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African
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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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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Latino
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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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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European (Finnish)
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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MQ
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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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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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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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BaseQRankSum
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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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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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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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QD
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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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GenotypeDepth
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GenotypeDepth
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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ClippingRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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South Asian
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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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QD
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VQSLOD
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MQ
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MQRankSum
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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European (Non-Finnish)
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African
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East Asian
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South Asian
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Other
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European (Finnish)
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FS
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MQRankSum
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QD
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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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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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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Latino
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QD
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ClippingRankSum
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InbreedingCoeff
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FS
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DP
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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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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African
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Other
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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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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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African
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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MQ
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MQRankSum
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BaseQRankSum
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QD
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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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Latino
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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FS
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MQ
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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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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Latino
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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MQRankSum
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MQ
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QD
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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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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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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African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65088
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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QD
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ReadPosRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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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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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 frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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East Asian
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Other
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European (Non-Finnish)
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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DP
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MQ
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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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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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num of homozygotes: 0

European (Finnish)
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allele count: 15
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Other
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East Asian
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European (Non-Finnish)
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allele num: 44068
num of homozygotes: 0

South Asian
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Latino
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VQSLOD
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MQRankSum
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QD
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DP
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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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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European (Finnish)
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African
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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Latino
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BaseQRankSum
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DP
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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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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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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African
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MQ
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InbreedingCoeff
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DP
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QD
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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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
all individuals: 3614
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.373626373626374e-3
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12752
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.418379685610641e-4
allele num: 8270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 7.659900421294523e-4
allele num: 5222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.294665976178146e-4
allele num: 54068
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -8.19e-1

QD
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

DP
type: SiteQuality
SIO_000300: 1.052795e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

FS
type: SiteQuality
SIO_000300: 9.137e0

VQSLOD
type: SiteQuality
SIO_000300: -2.642e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQ
type: SiteQuality
SIO_000300: 5.863e1

GenotypeDepth
all individuals: 1383
bin: 7.5e0
variant carriers: 712

GenotypeDepth
all individuals: 144
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variant carriers: 140

GenotypeDepth
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variant carriers: 10866

GenotypeDepth
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variant carriers: 511

GenotypeDepth
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variant carriers: 125

GenotypeDepth
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variant carriers: 57

GenotypeDepth
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variant carriers: 82

GenotypeDepth
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variant carriers: 213

GenotypeQuality
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variant carriers: 1982

GenotypeQuality
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variant carriers: 220

GenotypeQuality
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variant carriers: 1696

GenotypeQuality
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variant carriers: 2461

GenotypeQuality
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variant carriers: 2396

GenotypeQuality
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GenotypeQuality
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variant carriers: 1700

GenotypeQuality
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variant carriers: 70

GenotypeQuality
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variant carriers: 327

GenotypeQuality
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variant carriers: 2572

GenotypeQuality
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variant carriers: 1237

GenotypeQuality
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GenotypeQuality
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variant carriers: 1054

GenotypeQuality
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variant carriers: 31857

GenotypeQuality
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variant carriers: 300

GenotypeQuality
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variant carriers: 1066

GenotypeQuality
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variant carriers: 745

GenotypeQuality
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variant carriers: 703

GenotypeQuality
all individuals: 2338
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variant carriers: 2196

GenotypeQuality
all individuals: 1534
bin: 7.25e1
variant carriers: 1312

Latino
type: Population
allele count: 8957
allele frequency: 8.095625451916124e-1
allele num: 11064
num of homozygotes: 3624

Other
type: Population
allele count: 588
allele frequency: 6.697038724373576e-1
allele num: 878
num of homozygotes: 197

European (Finnish)
type: Population
allele count: 3862
allele frequency: 5.991312441824387e-1
allele num: 6446
num of homozygotes: 1125

East Asian
type: Population
allele count: 5235
allele frequency: 6.327048585931835e-1
allele num: 8274
num of homozygotes: 1636

African
type: Population
allele count: 6963
allele frequency: 6.935258964143426e-1
allele num: 10040
num of homozygotes: 2397

European (Non-Finnish)
type: Population
allele count: 44309
allele frequency: 6.90989333166989e-1
allele num: 64124
num of homozygotes: 15152

South Asian
type: Population
allele count: 11136
allele frequency: 7.004654673543842e-1
allele num: 15898
num of homozygotes: 3910

DP
type: SiteQuality
SIO_000300: 1.63067e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 2.573e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeDepth
all individuals: 10045
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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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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2066
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GenotypeQuality
all individuals: 8604
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520357588104722e-5
allele num: 65774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.296e-1

MQ
type: SiteQuality
SIO_000300: 5.832e1

QD
type: SiteQuality
SIO_000300: 1.137e1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

DP
type: SiteQuality
SIO_000300: 1.684526e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

GenotypeDepth
all individuals: 176
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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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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
all individuals: 11
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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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.477857639693948e-4
allele num: 8626
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 2.48e0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.732297e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

QD
type: SiteQuality
SIO_000300: 1.167e1

GenotypeDepth
all individuals: 10650
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variant carriers: 0

GenotypeDepth
all individuals: 35
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variant carriers: 0

GenotypeDepth
all individuals: 4778
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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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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
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: -1.944e0

VQSLOD
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SIO_000300: -1.821e0

QD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 1.734029e6

FS
type: SiteQuality
SIO_000300: 1.3876e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

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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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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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507340749449821e-5
allele num: 66342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

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

South Asian
type: Population
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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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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QD
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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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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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European (Non-Finnish)
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allele frequency: 1.506886471173262e-5
allele num: 66362
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Latino
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allele frequency: 8.677542519958348e-5
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South Asian
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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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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European (Finnish)
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South Asian
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African
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Other
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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QD
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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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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African
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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QD
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VQSLOD
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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BaseQRankSum
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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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African
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num of homozygotes: 0

Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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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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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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Other
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East Asian
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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African
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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MQ
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DP
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QD
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FS
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VQSLOD
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MQRankSum
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GenotypeQuality
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African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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MQ
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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FS
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QD
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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DP
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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African
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East Asian
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.247e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

FS
type: SiteQuality
SIO_000300: 6.64e0

QD
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SIO_000300: 1.22e1

DP
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SIO_000300: 1.746098e6

MQ
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SIO_000300: 5.855e1

VQSLOD
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BaseQRankSum
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SIO_000300: -3.518e0

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

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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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: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
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SIO_000300: -2.439e0

QD
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SIO_000300: 1.328e1

MQRankSum
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SIO_000300: 1.31e0

VQSLOD
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DP
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SIO_000300: 1.74638e6

ClippingRankSum
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SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 8.62e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

GenotypeDepth
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variant carriers: 2

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
all individuals: 1422
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variant carriers: 0

Latino
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allele count: 61
allele frequency: 5.270433730775877e-3
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.874015748031496e-4
allele num: 16510
num of homozygotes: 0

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

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

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 37
allele frequency: 5.555221908594078e-4
allele num: 66604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
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SIO_000300: 4.42e0

ReadPosRankSum
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SIO_000300: 6.42e-1

DP
type: SiteQuality
SIO_000300: 1.753829e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

GenotypeDepth
all individuals: 40
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variant carriers: 1

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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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
all individuals: 9000
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GenotypeQuality
all individuals: 2079
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variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

BaseQRankSum
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FS
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SIO_000300: 8.347e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 1.746926e6

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

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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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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
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FS
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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VQSLOD
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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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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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
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 (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: 1.211387038158692e-4
allele num: 16510
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African
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DP
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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QD
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ClippingRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 16

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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variant carriers: 0

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

East Asian
type: Population
allele count: 21
allele frequency: 2.430555555555556e-3
allele num: 8640
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.377e1

MQ
type: SiteQuality
SIO_000300: 5.924e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.747847e6

GenotypeDepth
all individuals: 2342
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 176
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21046
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10812
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 628
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30061
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4457
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2078
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6154
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8945
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3510
bin: 7.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.133e1

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 1.745226e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 1.836e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1