17-46056221-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056221
    reference: chr 17
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*701G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.204G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1015G>T
  hgvsp: ENSP00000344683.4:p.Asp339Tyr
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1090G>T
  hgvsp: ENSP00000438886.2:p.Asp364Tyr
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.1983G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.1960G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1747G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.468G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1938G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.207G>T
  hgvsp: ENSP00000464286.1:p.Asp70Tyr
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*695G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*701G>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp339Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-46056224-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056224
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056224
    reference: chr 17
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1018G>T
  hgvsp: ENSP00000344683.4:p.Ala340Ser
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1750G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*704G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.1986G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.210G>T
  hgvsp: ENSP00000464286.1:p.Ala71Ser
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.1963G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.207G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1093G>T
  hgvsp: ENSP00000438886.2:p.Ala365Ser
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*704G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.471G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*698G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1941G>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala340Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-46056228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056228
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056228
    reference: chr 17
allele count: 2
allele frequency: 1.658704883227176e-5
allele num: 120576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*708T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1754T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1945T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.1967T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1097T>C
  hgvsp: ENSP00000438886.2:p.Leu366Pro
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*708T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*702T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.214T>C
  hgvsp: ENSP00000464286.1:p.Leu72Pro
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.475T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1022T>C
  hgvsp: ENSP00000344683.4:p.Leu341Pro
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.1990T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.211T>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu341Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

17-46056232-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056232
    reference: chr 17
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.479A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1026A>G
  hgvsp: ENST00000338399.4:c.1026A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.1971A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1758A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1949A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.1994A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.218A>G
  hgvsp: ENST00000583697.1:c.218A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1101A>G
  hgvsp: ENST00000536708.2:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*706A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*712A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*712A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.215A>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr342Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

17-46056254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056254
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056254
    reference: chr 17
allele count: 2
allele frequency: 1.658952537367906e-5
allele num: 120558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*728C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*734C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.237C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1048C>T
  hgvsp: ENSP00000344683.4:p.Arg350Trp
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2016C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.1993C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.501C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1123C>T
  hgvsp: ENSP00000438886.2:p.Arg375Trp
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.240C>T
  hgvsp: ENSP00000464286.1:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*734C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1971C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1780C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg350Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-46056255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056255
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056255
    reference: chr 17
allele count: 3
allele frequency: 2.488470088589535e-5
allele num: 120556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.1994G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1124G>A
  hgvsp: ENSP00000438886.2:p.Arg375Gln
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1781G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.238G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*735G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.502G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1049G>A
  hgvsp: ENSP00000344683.4:p.Arg350Gln
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*729G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1972G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*735G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2017G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.241G>A
  hgvsp: ENSP00000464286.1:p.Arg81Gln
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg350Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-46056256-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056256
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056256
    reference: chr 17
allele count: 2
allele frequency: 1.659007581664648e-5
allele num: 120554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*730G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1050G>A
  hgvsp: ENST00000338399.4:c.1050G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.239G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2018G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.503G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*736G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1125G>A
  hgvsp: ENST00000536708.2:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1973G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.242G>A
  hgvsp: ENST00000583697.1:c.242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*736G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.1995G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1782G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg350Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-46056274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056274
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056274
    reference: chr 17
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.521G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.260G>A
  hgvsp: ENST00000583697.1:c.260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1143G>A
  hgvsp: ENST00000536708.2:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*754G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1068G>A
  hgvsp: ENST00000338399.4:c.1068G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*754G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.257G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*748G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2036G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2013G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1800G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1991G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu356Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-46056275-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056275
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056275
    reference: chr 17
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*755C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1801C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2014C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1069C>A
  hgvsp: ENSP00000344683.4:p.Leu357Ile
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1144C>A
  hgvsp: ENSP00000438886.2:p.Leu382Ile
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.522C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.1992C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*749C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*755C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.261C>A
  hgvsp: ENSP00000464286.1:p.Leu88Ile
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.258C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2037C>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu357Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

17-46056285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056285
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056285
    reference: chr 17
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+2T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+2T>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1077+2T>C
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-46056286-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056286
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056286
    reference: chr 17
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+3A>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+3A>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1077+3A>C
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

17-46056287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056287
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056287
    reference: chr 17
allele count: 1
allele frequency: 8.301924386072691e-6
allele num: 120454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+4C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+4C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1077+4C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

17-46056291-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056291
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056291
    reference: chr 17
allele count: 3
allele frequency: 2.490742739484914e-5
allele num: 120446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+8C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+8C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1077+8C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

17-46056292-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056292
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056292
    reference: chr 17
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+9A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+9A>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-46056293-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056293
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056293
    reference: chr 17
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+10T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+10T>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-46056296-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056296
    reference: chr 17
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+13C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+13C>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-46056296-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056296
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056296
    reference: chr 17
allele count: 9
allele frequency: 7.473717427048213e-5
allele num: 120422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+13C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+13C>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

17-46056305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056305
    reference: chr 17
allele count: 7
allele frequency: 5.815595766246282e-5
allele num: 120366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+22G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+22G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

17-46056306-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056306
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056306
    reference: chr 17
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+23C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+23C>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-46056307-A-AGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056307
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056309
    reference: chr 17
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: AGG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+29_*757+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+29_2000+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+29_1809+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+29_266+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+29_530+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+29_*763+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+29_2022+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+29_269+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+29_2045+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+29_*763+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+29_1152+30dupGG
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+29_1077+30dupGG
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

17-46056307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056307
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056307
    reference: chr 17
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+24A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+24A>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-46056309-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056309
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056309
    reference: chr 17
allele count: 2
allele frequency: 1.662095902933599e-5
allele num: 120330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+26G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+26G>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-46056309-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056309
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056309
    reference: chr 17
allele count: 11
allele frequency: 9.141527466134796e-5
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+26G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+26G>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12660
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-46056312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056312
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056312
    reference: chr 17
allele count: 7
allele frequency: 5.81694892718842e-5
allele num: 120338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+29G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+29G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9971
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

17-46056320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056320
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056320
    reference: chr 17
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+37G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+37G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

17-46056321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46056321
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46056321
    reference: chr 17
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1077+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.269+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*757+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2022+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1152+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.530+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1809+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2000+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*763+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.266+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*763+38G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2045+38G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11832
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-46057908-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057908
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057908
    reference: chr 17
allele count: 20
allele frequency: 1.658044833532299e-4
allele num: 120624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.387G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1326C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-51C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-51C>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

17-46057916-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057916
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057916
    reference: chr 17
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.379T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-43A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1334A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-43A>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-46057923-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057923
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057923
    reference: chr 17
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1341A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.372T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-36A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-36A>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

17-46057925-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057925
    reference: chr 17
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.370C>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1343G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-34G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-34G>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-46057932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057932
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057932
    reference: chr 17
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1350C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.363G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-27C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-27C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

17-46057940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057940
    reference: chr 17
allele count: 2
allele frequency: 1.656204971927326e-5
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1358A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.355T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-19A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-19A>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-46057940-ATCTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057936
    reference: chr 17
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-14_267-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-14_1153-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-14_1078-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-14_2001-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-14_2046-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-14_*764-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-14_*758-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-14_270-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-14_2023-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.351_354delAAGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1363_1366delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-14_1810-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-14_*764-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-14_531-11delTCTT
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: ATCTT
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-46057951-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057951
    reference: chr 17
allele count: 9
allele frequency: 7.452058424138045e-5
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1369G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.344C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-8G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-8G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1078-8G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-46057951-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057951
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057951
    reference: chr 17
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1369G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.344C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-8G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-8G>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1078-8G>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-46057952-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057952
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057952
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.343A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1370T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-7T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-7T>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1078-7T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-46057958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057958
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057958
    reference: chr 17
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.337C>T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1376G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023-1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001-1G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1078-1G>A
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

17-46057959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057959
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057959
    reference: chr 17
allele count: 6
allele frequency: 4.968038949425363e-5
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.267C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*758C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1078C>T
  hgvsp: ENSP00000344683.4:p.Leu360Phe
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2023C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.336G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1153C>T
  hgvsp: ENSP00000438886.2:p.Leu385Phe
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1810C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*764C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*764C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.531C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.270C>T
  hgvsp: ENSP00000464286.1:p.Leu91Phe
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1377C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2046C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2001C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu360Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-46057966-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057966
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057966
    reference: chr 17
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.538T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.277T>A
  hgvsp: ENSP00000464286.1:p.Ile93Asn
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1160T>A
  hgvsp: ENSP00000438886.2:p.Ile387Asn
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2030T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.274T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1085T>A
  hgvsp: ENSP00000344683.4:p.Ile362Asn
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*771T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1384T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*771T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*765T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.329A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1817T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2008T>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2053T>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile362Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

17-46057970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057970
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057970
    reference: chr 17
allele count: 3
allele frequency: 2.483937206067431e-5
allele num: 120776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.325G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*775C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1388C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.542C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.281C>T
  hgvsp: ENST00000583697.1:c.281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1089C>T
  hgvsp: ENST00000338399.4:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.278C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*775C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*769C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2034C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1821C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1164C>T
  hgvsp: ENST00000536708.2:c.1164C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2057C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2012C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Phe363Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-46057976-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057976
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057976
    reference: chr 17
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*775C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.548C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.287C>A
  hgvsp: ENST00000583697.1:c.287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.284C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2063C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1095C>A
  hgvsp: ENST00000338399.4:c.1095C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2040C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.319G>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*781C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1170C>A
  hgvsp: ENST00000536708.2:c.1170C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1827C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*781C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2018C>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1394C>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala365Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-46057984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057984
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057984
    reference: chr 17
allele count: 50
allele frequency: 4.139758238118894e-4
allele num: 120780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1103C>T
  hgvsp: ENSP00000344683.4:p.Ala368Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2048C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1835C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*783C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*789C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*789C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1178C>T
  hgvsp: ENSP00000438886.2:p.Ala393Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.295C>T
  hgvsp: ENSP00000464286.1:p.Ala99Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.311G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.556C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2026C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.292C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1402C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2071C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15392
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
hgvs: p.Ala368Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

17-46057992-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057992
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057992
    reference: chr 17
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.303T>C
  hgvsp: ENST00000583697.1:c.303T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1111T>C
  hgvsp: ENST00000338399.4:c.1111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*797T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.564T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1843T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.300T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*797T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*791T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2034T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1186T>C
  hgvsp: ENST00000536708.2:c.1186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2056T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2079T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.303A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1410T>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu371Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-46057996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46057996
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46057996
    reference: chr 17
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*801G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1115G>A
  hgvsp: ENSP00000344683.4:p.Ser372Asn
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2083G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.307G>A
  hgvsp: ENSP00000464286.1:p.Ser103Asn
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1190G>A
  hgvsp: ENSP00000438886.2:p.Ser397Asn
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*795G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1847G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2060G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*801G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.568G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.299C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1414G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.304G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2038G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15403
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser372Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-46058003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058003
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058003
    reference: chr 17
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1122G>A
  hgvsp: ENST00000338399.4:c.1122G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.311G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*802G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.314G>A
  hgvsp: ENST00000583697.1:c.314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2045G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*808G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*808G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1197G>A
  hgvsp: ENST00000536708.2:c.1197G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1854G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2067G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.292C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1421G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.575G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2090G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu374Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-46058007-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058007
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058007
    reference: chr 17
allele count: 2
allele frequency: 1.655930715858849e-5
allele num: 120778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1858G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.288C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2071G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.579G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1126G>C
  hgvsp: ENSP00000344683.4:p.Asp376His
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.318G>C
  hgvsp: ENSP00000464286.1:p.Asp107His
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1201G>C
  hgvsp: ENSP00000438886.2:p.Asp401His
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*812G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*806G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*812G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1425G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2049G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2094G>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.315G>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp376His
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

17-46058017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058017
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058017
    reference: chr 17
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1211C>T
  hgvsp: ENSP00000438886.2:p.Ser404Phe
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1435C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.325C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2081C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*822C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2059C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1868C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.278G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1136C>T
  hgvsp: ENSP00000344683.4:p.Ser379Phe
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2104C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*822C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.328C>T
  hgvsp: ENSP00000464286.1:p.Ser110Phe
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.589C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*816C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser379Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-46058019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058019
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058019
    reference: chr 17
allele count: 3
allele frequency: 2.483896073788273e-5
allele num: 120778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1213G>A
  hgvsp: ENSP00000438886.2:p.Val405Met
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*824G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.276C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*824G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.330G>A
  hgvsp: ENSP00000464286.1:p.Val111Met
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1870G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1138G>A
  hgvsp: ENSP00000344683.4:p.Val380Met
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1437G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.591G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*818G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2061G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2083G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2106G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.327G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val380Met
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-46058024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058024
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058024
    reference: chr 17
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.335C>T
  hgvsp: ENST00000583697.1:c.335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.332C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*823C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1143C>T
  hgvsp: ENST00000338399.4:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1442C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2066C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1875C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2088C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.271G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*829C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1218C>T
  hgvsp: ENST00000536708.2:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2111C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.596C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*829C>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser381Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

17-46058032-AGCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058032
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058028
    reference: chr 17
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*841_*844delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*835_*838delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1887_1890delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.347_350delGGCT
  hgvsp: ENSP00000464286.1:p.Ala117GlnfsTer22
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.259_262delCAGC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1230_1233delGGCT
  hgvsp: ENSP00000438886.2:p.Ala411GlnfsTer22
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2100_2103delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1155_1158delGGCT
  hgvsp: ENSP00000344683.4:p.Ala386GlnfsTer22
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2123_2126delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2078_2081delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1454_1457delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.608_611delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.344_347delGGCT
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*841_*844delGGCT
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala386GlnfsTer22
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: AGCTG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-46058040-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058041
    reference: chr 17
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1891_1892insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2082_2083insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1234_1235insA
  hgvsp: ENSP00000438886.2:p.Pro412HisfsTer49
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*845_*846insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2104_2105insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*839_*840insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*845_*846insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1458_1459insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1159_1160insA
  hgvsp: ENSP00000344683.4:p.Pro387HisfsTer49
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2127_2128insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.351_352insA
  hgvsp: ENSP00000464286.1:p.Pro118HisfsTer49
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.612_613insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.348_349insA
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.254_255insT
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro387HisfsTer49
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-46058040-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058040
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058040
    reference: chr 17
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2127C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1458C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*845C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2104C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.351C>G
  hgvsp: ENSP00000464286.1:p.Pro118Ala
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*839C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2082C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1159C>G
  hgvsp: ENSP00000344683.4:p.Pro387Ala
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*845C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1234C>G
  hgvsp: ENSP00000438886.2:p.Pro412Ala
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1891C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.348C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.255G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.612C>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro387Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

17-46058056-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058056
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058056
    reference: chr 17
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1175G>T
  hgvsp: ENSP00000344683.4:p.Gly392Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2098G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*861G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.367G>T
  hgvsp: ENSP00000464286.1:p.Gly123Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*855G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-8C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.364G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1250G>T
  hgvsp: ENSP00000438886.2:p.Gly417Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*861G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2143G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1474G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2120G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.628G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1907G>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly392Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

17-46058057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058057
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058057
    reference: chr 17
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2099C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.368C>T
  hgvsp: ENST00000583697.1:c.368C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1176C>T
  hgvsp: ENST00000338399.4:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2144C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2121C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.365C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*856C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1251C>T
  hgvsp: ENST00000536708.2:c.1251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1475C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.629C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*862C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1908C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*862C>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-9G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly392Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-46058059-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058059
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058059
    reference: chr 17
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2101A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1178A>G
  hgvsp: ENSP00000344683.4:p.Gln393Arg
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*858A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.631A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2146A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-11T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1910A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*864A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1477A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.367A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1253A>G
  hgvsp: ENSP00000438886.2:p.Gln418Arg
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.370A>G
  hgvsp: ENSP00000464286.1:p.Gln124Arg
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*864A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2123A>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln393Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

17-46058073-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058073
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058073
    reference: chr 17
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.381A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2160A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582114
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582114.1:n.645A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1267A>T
  hgvsp: ENSP00000438886.2:p.Met423Leu
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2137A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-25T>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*878A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*872A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1491A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1192A>T
  hgvsp: ENSP00000344683.4:p.Met398Leu
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1924A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.384A>T
  hgvsp: ENSP00000464286.1:p.Met129Leu
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*878A>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2115A>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met398Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

17-46058084-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058084
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058084
    reference: chr 17
allele count: 7
allele frequency: 5.795949459320715e-5
allele num: 120774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1935G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.395G>T
  hgvsp: ENSP00000464286.1:p.Met132Ile
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*889G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1278G>T
  hgvsp: ENSP00000438886.2:p.Met426Ile
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.392G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1203G>T
  hgvsp: ENSP00000344683.4:p.Met401Ile
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-36C>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*883G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2126G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2171G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*889G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2148G>T
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1502G>T
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met401Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-46058101-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058101
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058101
    reference: chr 17
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1952A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*906A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2143A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.412A>G
  hgvsp: ENSP00000464286.1:p.Asp138Gly
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1519A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1220A>G
  hgvsp: ENSP00000344683.4:p.Asp407Gly
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*900A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2165A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.409A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1295A>G
  hgvsp: ENSP00000438886.2:p.Asp432Gly
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*906A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2188A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-53T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp407Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-46058107-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058107
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058107
    reference: chr 17
allele count: 4
allele frequency: 3.311916274756574e-5
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*906T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1301T>C
  hgvsp: ENSP00000438886.2:p.Ile434Thr
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-59A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2149T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2194T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.415T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1226T>C
  hgvsp: ENSP00000344683.4:p.Ile409Thr
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*912T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2171T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.418T>C
  hgvsp: ENSP00000464286.1:p.Ile140Thr
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1525T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*912T>C
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1958T>C
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile409Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

17-46058120-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058120
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058120
    reference: chr 17
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2207C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1314C>G
  hgvsp: ENST00000536708.2:c.1314C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2162C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*919C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*925C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.431C>G
  hgvsp: ENST00000583697.1:c.431C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1538C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*925C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1239C>G
  hgvsp: ENST00000338399.4:c.1239C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.428C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1971C>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-72G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2184C>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr413Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-46058137-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058137
    reference: chr 17
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*942A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*942A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1988A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-89T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.448A>G
  hgvsp: ENSP00000464286.1:p.His150Arg
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1256A>G
  hgvsp: ENSP00000344683.4:p.His419Arg
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*936A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2224A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1555A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2179A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2201A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.445A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1331A>G
  hgvsp: ENSP00000438886.2:p.His444Arg
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His419Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-46058145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058145
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058145
    reference: chr 17
allele count: 4
allele frequency: 3.312245371137094e-5
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.1996A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.453A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1339A>G
  hgvsp: ENSP00000438886.2:p.Met447Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*950A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*950A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2209A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.456A>G
  hgvsp: ENSP00000464286.1:p.Met153Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*944A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1264A>G
  hgvsp: ENSP00000344683.4:p.Met422Val
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2187A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-97T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1563A>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2232A>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met422Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

17-46058149-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058149
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058149
    reference: chr 17
allele count: 3
allele frequency: 2.484225170169424e-5
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1567T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*954T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.460T>G
  hgvsp: ENSP00000464286.1:p.Ile154Ser
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.2000T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*954T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2213T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-101A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2236T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*948T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1343T>G
  hgvsp: ENSP00000438886.2:p.Ile448Ser
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2191T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.457T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1268T>G
  hgvsp: ENSP00000344683.4:p.Ile423Ser
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile423Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-46058165-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058165
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058165
    reference: chr 17
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2251+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.472+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.2015+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1358+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-117C>T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.475+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*969+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*963+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2228+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1583G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1283+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*969+1G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2206+1G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.1283+1G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-46058169-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058169
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058169
    reference: chr 17
allele count: 2
allele frequency: 1.656561640658649e-5
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2228+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*969+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-121C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.2015+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2206+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2251+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1358+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.472+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*969+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.475+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*963+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1283+5G>A
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1587G>A
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1283+5G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

17-46058172-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46058172
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 46058172
    reference: chr 17
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000578663
  gene symbol: CDK5RAP3
  hgvsc: ENST00000578663.1:n.472+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000438886
  ensembl transcript: ENST00000536708
  gene symbol: CDK5RAP3
  hgvsc: ENST00000536708.2:c.1358+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000344683
  ensembl transcript: ENST00000338399
  gene symbol: CDK5RAP3
  hgvsc: ENST00000338399.4:c.1283+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000580287
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580287.1:n.2228+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463442
  ensembl transcript: ENST00000580670
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580670.2:c.*963+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000582482
  gene symbol: CDK5RAP3
  hgvsc: ENST00000582482.1:n.1590T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584063
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584063.1:n.2251+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000464286
  ensembl transcript: ENST00000583697
  gene symbol: CDK5RAP3
  hgvsc: ENST00000583697.1:c.475+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000462012
  ensembl transcript: ENST00000584991
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584991.1:c.*969+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000584168
  gene symbol: CDK5RAP3
  hgvsc: ENST00000584168.1:n.2206+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000108465
  ensembl protein: ENSP00000463878
  ensembl transcript: ENST00000580391
  gene symbol: CDK5RAP3
  hgvsc: ENST00000580391.1:c.*969+8T>G
  variant of: http://identifiers.org/hgnc/18673
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000264701
  ensembl transcript: ENST00000578239
  gene symbol: RP11-6N17.10
  hgvsc: ENST00000578239.1:n.247-124A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000108465
  ensembl transcript: ENST00000585163
  gene symbol: CDK5RAP3
  hgvsc: ENST00000585163.1:n.2015+8T>G
  variant of: http://identifiers.org/hgnc/18673
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1283+8T>G
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14203
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4718
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19210
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2667
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5293
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4067
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

FS
type: SiteQuality
SIO_000300: 2.966e0

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.756e0

QD
type: SiteQuality
SIO_000300: 1.279e1

DP
type: SiteQuality
SIO_000300: 2.101122e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

GenotypeDepth
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 403
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3473
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4718
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5295
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2666
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6516
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4067
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19210
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 11562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
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FS
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SIO_000300: 2.2677e1

QD
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 6.5e-3

ClippingRankSum
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SIO_000300: 5.25e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

Latino
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allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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ClippingRankSum
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MQ
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SIO_000300: 5.961e1

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele num: 66648
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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Other
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
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BaseQRankSum
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DP
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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SIO_000300: -7.822e-1

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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num of homozygotes: 0

African
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allele num: 9730
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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East Asian
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num of homozygotes: 0

Other
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QD
type: SiteQuality
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FS
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: 1.45e-1

ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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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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FS
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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Latino
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FS
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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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BaseQRankSum
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VQSLOD
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MQ
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DP
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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 1.61e-2

VQSLOD
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ReadPosRankSum
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SIO_000300: -8.9e-2

DP
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SIO_000300: 2.099805e6

MQ
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SIO_000300: 5.926e1

MQRankSum
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SIO_000300: -2.197e0

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -5.172e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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MQ
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SIO_000300: 5.957e1

FS
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QD
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MQRankSum
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SIO_000300: 2.6e-1

BaseQRankSum
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SIO_000300: 5.49e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 1
allele frequency: 1.029018316526034e-4
allele num: 9718
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

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

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

Latino
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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: 0.0e0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 1.85e-1

ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 7.1e-3

FS
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SIO_000300: 2.165e0

VQSLOD
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SIO_000300: 1.7e-1

BaseQRankSum
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DP
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SIO_000300: 2.09836e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
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SIO_000300: 1.443e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8612
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

African
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allele num: 9716
num of homozygotes: 0

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

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

DP
type: SiteQuality
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VQSLOD
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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
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

South Asian
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allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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African
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allele num: 9716
num of homozygotes: 0

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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allele num: 66574
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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Other
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South Asian
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African
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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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 count: 1
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allele num: 66562
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Other
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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MQRankSum
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DP
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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Latino
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num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

FS
type: SiteQuality
SIO_000300: 1.485e0

InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.096412e6

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

QD
type: SiteQuality
SIO_000300: 1.658e1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.352163461538462e-4
allele num: 66560
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.096412e6

VQSLOD
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FS
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SIO_000300: 1.485e0

QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
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SIO_000300: -1.621e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 7
allele frequency: 7.216494845360825e-4
allele num: 9700
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

DP
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SIO_000300: 2.09334e6

ReadPosRankSum
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SIO_000300: -4.7e-2

ClippingRankSum
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MQ
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SIO_000300: 5.968e1

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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SIO_000300: 1.281e1

VQSLOD
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SIO_000300: 1.99e0

FS
type: SiteQuality
SIO_000300: 8.139999999999999e-1

BaseQRankSum
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SIO_000300: -4.799e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.030715316429602e-4
allele num: 9702
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.766e0

InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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SIO_000300: 2.09346e6

MQRankSum
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SIO_000300: 7.43e-1

ReadPosRankSum
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SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 2.015e1

GenotypeDepth
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variant carriers: 0

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: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

Other
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African
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East Asian
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South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66508
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Other
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East Asian
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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QD
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 0

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

East Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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Other
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InbreedingCoeff
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SIO_000300: 8.0e-4

ClippingRankSum
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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SIO_000300: 2.093015e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele 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 frequency: 7.223942208462332e-4
allele num: 9690
num of homozygotes: 0

InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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FS
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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SIO_000300: -3.94e-1

ClippingRankSum
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SIO_000300: -4.79e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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num of homozygotes: 0

MQRankSum
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SIO_000300: -2.44e-1

InbreedingCoeff
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VQSLOD
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DP
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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: 8610
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.064e1

MQRankSum
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ReadPosRankSum
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DP
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MQ
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SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 1.643e0

InbreedingCoeff
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SIO_000300: 2.0e-3

ClippingRankSum
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SIO_000300: 1.18e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999850007499625e-5
allele num: 66670
num of homozygotes: 0

European (Finnish)
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allele count: 17
allele frequency: 2.57030541276081e-3
allele num: 6614
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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QD
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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
allele num: 9808
num of homozygotes: 0

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

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

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

European (Finnish)
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allele num: 6614
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Other
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East Asian
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Latino
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African
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South Asian
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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MQRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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MQ
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FS
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66706
num of homozygotes: 0

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

African
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
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allele num: 66724
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Other
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South Asian
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Latino
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East Asian
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MQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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DP
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InbreedingCoeff
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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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GenotypeQuality
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South Asian
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allele num: 16510
num of homozygotes: 0

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

East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.106e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.301375e6

MQ
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SIO_000300: 5.874e1

FS
type: SiteQuality
SIO_000300: 4.64e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.82e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

VQSLOD
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SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -6.64e-1

QD
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SIO_000300: 1.119e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 2.301449e6

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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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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: 900
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 3.0e-3

MQRankSum
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DP
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
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SIO_000300: -6.58e0

VQSLOD
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ReadPosRankSum
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SIO_000300: 4.6e-1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.22e1

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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

South Asian
type: Population
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
allele num: 9810
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

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.292e1

ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 3.058103975535168e-4
allele num: 9810
num of homozygotes: 0

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

Latino
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East Asian
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Other
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

Latino
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South Asian
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European (Non-Finnish)
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allele num: 66740
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African
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Other
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East Asian
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European (Finnish)
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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East Asian
type: Population
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11576
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European (Non-Finnish)
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allele num: 66740
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South Asian
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African
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DP
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MQRankSum
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FS
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BaseQRankSum
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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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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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VQSLOD
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QD
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MQ
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DP
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BaseQRankSum
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ClippingRankSum
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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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Latino
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European (Finnish)
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South Asian
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African
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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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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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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DP
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MQRankSum
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QD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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MQ
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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FS
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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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European (Non-Finnish)
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QD
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FS
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MQ
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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African
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South Asian
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FS
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MQ
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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European (Finnish)
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ReadPosRankSum
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QD
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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European (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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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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East Asian
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BaseQRankSum
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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Latino
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Other
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African
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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European (Non-Finnish)
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Other
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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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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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East Asian
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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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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QD
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MQ
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InbreedingCoeff
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DP
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SIO_000300: 2.292737e6

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

FS
type: SiteQuality
SIO_000300: 4.898e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.437e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1973
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

FS
type: SiteQuality
SIO_000300: 1.2555e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 2.292653e6

VQSLOD
type: SiteQuality
SIO_000300: -7.131e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3463
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4217
bin: 8.25e1
variant carriers: 0

African
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allele count: 7
allele frequency: 7.138486640832143e-4
allele num: 9806
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.29268e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.766e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeDepth
all individuals: 1049
bin: 9.75e1
variant carriers: 1

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13793
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5196
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

FS
type: SiteQuality
SIO_000300: 6.007e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 2.292048e6

MQ
type: SiteQuality
SIO_000300: 6.003e1

QD
type: SiteQuality
SIO_000300: 1.636e1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 4.078303425774878e-4
allele num: 9808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
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SIO_000300: -1.131e0

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 1.764e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 2.292166e6

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3467
bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.82e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
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QD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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SIO_000300: 5.2e-3

VQSLOD
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SIO_000300: 8.39e-1

BaseQRankSum
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SIO_000300: -1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

MQRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.954e1

ReadPosRankSum
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VQSLOD
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FS
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DP
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QD
type: SiteQuality
SIO_000300: 1.189e1

ClippingRankSum
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SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
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GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13787
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 3.466e0

QD
type: SiteQuality
SIO_000300: 1.387e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.025e0

DP
type: SiteQuality
SIO_000300: 2.291529e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8812
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.291216e6

MQ
type: SiteQuality
SIO_000300: 5.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.353e-1

BaseQRankSum
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SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13780
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4210
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
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SIO_000300: -4.263e0

MQRankSum
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SIO_000300: -6.26e-1

QD
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SIO_000300: 1.1e1

ClippingRankSum
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SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 2.289942e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeDepth
all individuals: 9212
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 754
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 530
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variant carriers: 0

GenotypeDepth
all individuals: 312
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variant carriers: 0

GenotypeDepth
all individuals: 1232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13778
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2994
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variant carriers: 0

GenotypeQuality
all individuals: 8799
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 4209
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.324e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.289345e6

VQSLOD
type: SiteQuality
SIO_000300: -1.03e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 8.561e0

MQRankSum
type: SiteQuality
SIO_000300: 4.09e-1

GenotypeDepth
all individuals: 709
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 1042
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 753
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 5183
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13775
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variant carriers: 1

GenotypeQuality
all individuals: 4204
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8785
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0