11-46765721-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765721
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765721
    reference: chr 11
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5771A>T
  hgvsp: ENSP00000346566.3:p.Gln1924Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5972A>T
  hgvsp: ENSP00000395302.1:p.Gln1991Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2930A>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5771A>T
  hgvsp: ENSP00000310227.5:p.Gln1924Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*216A>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5951A>T
  hgvsp: ENSP00000432768.1:p.Gln1984Leu
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln1984Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

11-46765724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765724
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765724
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5768C>T
  hgvsp: ENSP00000346566.3:p.Ser1923Phe
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5969C>T
  hgvsp: ENSP00000395302.1:p.Ser1990Phe
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5948C>T
  hgvsp: ENSP00000432768.1:p.Ser1983Phe
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*213C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2927C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5768C>T
  hgvsp: ENSP00000310227.5:p.Ser1923Phe
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1983Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-46765726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765726
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765726
    reference: chr 11
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2925C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5946C>T
  hgvsp: ENST00000529230.1:c.5946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5967C>T
  hgvsp: ENST00000415402.1:c.5967C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5766C>T
  hgvsp: ENST00000354558.3:c.5766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5766C>T
  hgvsp: ENST00000312055.5:c.5766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1982Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-46765741-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765741
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765741
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5952G>A
  hgvsp: ENSP00000395302.1:p.Met1984Ile
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*196G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5751G>A
  hgvsp: ENSP00000310227.5:p.Met1917Ile
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5751G>A
  hgvsp: ENSP00000346566.3:p.Met1917Ile
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5931G>A
  hgvsp: ENSP00000432768.1:p.Met1977Ile
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2910G>A
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1977Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-46765747-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765747
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765747
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5745A>G
  hgvsp: ENST00000312055.5:c.5745A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5745A>G
  hgvsp: ENST00000354558.3:c.5745A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*190A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2904A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5925A>G
  hgvsp: ENST00000529230.1:c.5925A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5946A>G
  hgvsp: ENST00000415402.1:c.5946A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37065
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr1975Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/11-46765752-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765752
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765752
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*185T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5740T>G
  hgvsp: ENSP00000346566.3:p.Ser1914Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5920T>G
  hgvsp: ENSP00000432768.1:p.Ser1974Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5941T>G
  hgvsp: ENSP00000395302.1:p.Ser1981Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2899T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5740T>G
  hgvsp: ENSP00000310227.5:p.Ser1914Ala
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser1974Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

11-46765758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765758
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765758
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5935G>A
  hgvsp: ENSP00000395302.1:p.Ala1979Thr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2893G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5914G>A
  hgvsp: ENSP00000432768.1:p.Ala1972Thr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*179G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5734G>A
  hgvsp: ENSP00000310227.5:p.Ala1912Thr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5734G>A
  hgvsp: ENSP00000346566.3:p.Ala1912Thr
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6819
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1972Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-46765770-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765770
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765770
    reference: chr 11
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5722G>C
  hgvsp: ENSP00000310227.5:p.Val1908Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5902G>C
  hgvsp: ENSP00000432768.1:p.Val1968Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2881G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5923G>C
  hgvsp: ENSP00000395302.1:p.Val1975Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*167G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5722G>C
  hgvsp: ENSP00000346566.3:p.Val1908Leu
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7496
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val1968Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-46765779-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765779
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765779
    reference: chr 11
allele count: 8
allele frequency: 6.591306067297235e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2872A>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5713A>C
  hgvsp: ENSP00000310227.5:p.Lys1905Gln
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5713A>C
  hgvsp: ENSP00000346566.3:p.Lys1905Gln
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*158A>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5914A>C
  hgvsp: ENSP00000395302.1:p.Lys1972Gln
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5893A>C
  hgvsp: ENSP00000432768.1:p.Lys1965Gln
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37071
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys1965Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/11-46765782-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765782
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765782
    reference: chr 11
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*155T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5710T>G
  hgvsp: ENSP00000310227.5:p.Ser1904Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5890T>G
  hgvsp: ENSP00000432768.1:p.Ser1964Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5710T>G
  hgvsp: ENSP00000346566.3:p.Ser1904Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5911T>G
  hgvsp: ENSP00000395302.1:p.Ser1971Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2869T>G
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser1964Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-46765797-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765797
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765797
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5695T>C
  hgvsp: ENST00000312055.5:c.5695T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5875T>C
  hgvsp: ENST00000529230.1:c.5875T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2854T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5896T>C
  hgvsp: ENST00000415402.1:c.5896T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5695T>C
  hgvsp: ENST00000354558.3:c.5695T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*140T>C
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37071
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1959Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

11-46765799-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765799
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765799
    reference: chr 11
allele count: 6
allele frequency: 4.943642475776152e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2852C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5894C>G
  hgvsp: ENSP00000395302.1:p.Pro1965Arg
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*138C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5873C>G
  hgvsp: ENSP00000432768.1:p.Pro1958Arg
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5693C>G
  hgvsp: ENSP00000346566.3:p.Pro1898Arg
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5693C>G
  hgvsp: ENSP00000310227.5:p.Pro1898Arg
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37074
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6639
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1958Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-46765823-GAGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765823
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765820
    reference: chr 11
allele count: 6
allele frequency: 4.945190801945108e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-11_5677-9delTCT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*111_*113delTCT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-11_2836-9delTCT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-11_5878-9delTCT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-11_5677-9delTCT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-11_5857-9delTCT
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: GAGA
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-46765837-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765837
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765837
    reference: chr 11
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-22A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-22A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-22A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-22A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*100A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-22A>G
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37075
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-46765842-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765842
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765842
    reference: chr 11
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-27A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-27A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*95A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-27A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-27A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-27A>G
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37078
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-46765845-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765845
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765845
    reference: chr 11
allele count: 16
allele frequency: 1.31900019785003e-4
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-30C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*92C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-30C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-30C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-30C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-30C>G
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

11-46765847-TCAGGTCAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765847
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765838
    reference: chr 11
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*81_*89delCTTGACCTG
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37085
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: TCAGGTCAAG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

11-46765851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765851
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765851
    reference: chr 11
allele count: 3
allele frequency: 2.473166147301776e-5
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*86C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-36C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-36C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-36C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-36C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-36C>T
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

11-46765862-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765862
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765862
    reference: chr 11
allele count: 18
allele frequency: 1.484242294308755e-4
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*75G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-47G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-47G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-47G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-47G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-47G>C
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37096
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/11-46765864-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765864
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765864
    reference: chr 11
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-49T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*73T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-49T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-49T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-49T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-49T>G
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-46765890-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765890
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765890
    reference: chr 11
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-75T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-75T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-75T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-75T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-75T>C
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

11-46765891-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765891
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765891
    reference: chr 11
allele count: 5
allele frequency: 4.126229616425695e-5
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5677-76G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2836-76G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*46G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5857-76G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5878-76G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5677-76G>C
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16176
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-46765902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765902
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765902
    reference: chr 11
allele count: 13
allele frequency: 1.072501072501073e-4
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+74G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+74G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+74G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+74G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+74G>A
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16165
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7161
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

11-46765904-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765904
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765904
    reference: chr 11
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+72G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*33G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+72G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+72G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+72G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+72G>C
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16151
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17190
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

11-46765915-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765915
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765915
    reference: chr 11
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*22G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+61G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+61G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+61G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+61G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+61G>C
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16141
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-46765917-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765917
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765917
    reference: chr 11
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+59A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*20A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+59A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+59A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+59A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+59A>G
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7140
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

11-46765923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765923
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765923
    reference: chr 11
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+53C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+53C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+53C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+53C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+53C>T
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16139
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-46765929-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765929
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765929
    reference: chr 11
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.*8C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+47C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+47C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+47C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+47C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+47C>G
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18504
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5030
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

11-46765938-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765938
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765938
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+38A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+38A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+38A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+38A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.609A>G
  hgvsp: ENSP00000434523.1:p.Ter204TrpextTer19
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+38A>G
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter204TrpextTer19
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

11-46765945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765945
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765945
    reference: chr 11
allele count: 31
allele frequency: 2.554341556665183e-4
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.602G>A
  hgvsp: ENSP00000434523.1:p.Gly202Arg
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+31G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+31G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+31G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+31G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+31G>A
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly202Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-46765950-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765950
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765950
    reference: chr 11
allele count: 365
allele frequency: 3.007332948834143e-3
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+26T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+26T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+26T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+26T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.597T>C
  hgvsp: ENSP00000434523.1:p.Val200Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+26T>C
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14234
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6661
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.75e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18847
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val200Ala
num of homozygotes: 4
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

11-46765953-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765953
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765953
    reference: chr 11
allele count: 51
allele frequency: 4.201819140522014e-4
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.594C>T
  hgvsp: ENSP00000434523.1:p.Ala199Val
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+23C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+23C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+23C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+23C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+23C>T
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14343
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13943
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala199Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-46765956-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765956
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765956
    reference: chr 11
allele count: 3
allele frequency: 2.471699045924168e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+20G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+20G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+20G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+20G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.591G>T
  hgvsp: ENSP00000434523.1:p.Cys198Phe
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+20G>T
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15899
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys198Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-46765957-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765957
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765957
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+19T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.590T>G
  hgvsp: ENSP00000434523.1:p.Cys198Gly
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+19T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+19T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+19T>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+19T>G
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19054
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys198Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-46765958-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765958
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765958
    reference: chr 11
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.589C>A
  hgvsp: ENSP00000434523.1:p.Phe197Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+18C>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+18C>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+18C>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+18C>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+18C>A
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe197Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

11-46765959-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765959
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765959
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+17T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+17T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+17T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+17T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.588T>A
  hgvsp: ENSP00000434523.1:p.Phe197Tyr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+17T>A
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe197Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

11-46765964-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765964
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765964
    reference: chr 11
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5877+12T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5676+12T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.583T>A
  hgvsp: ENST00000525896.1:c.583T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2835+12T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5856+12T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5676+12T>A
  variant of: http://identifiers.org/hgnc/28959
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 19077
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu195Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/11-46765988-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765988
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765988
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5865G>T
  hgvsp: ENST00000415402.1:c.5865G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.559G>T
  hgvsp: ENST00000525896.1:c.559G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5844G>T
  hgvsp: ENST00000529230.1:c.5844G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5664G>T
  hgvsp: ENST00000312055.5:c.5664G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5664G>T
  hgvsp: ENST00000354558.3:c.5664G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2823G>T
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15896
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1948Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

11-46765988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765988
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765988
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.559G>A
  hgvsp: ENST00000525896.1:c.559G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5844G>A
  hgvsp: ENST00000529230.1:c.5844G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2823G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5865G>A
  hgvsp: ENST00000415402.1:c.5865G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5664G>A
  hgvsp: ENST00000312055.5:c.5664G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5664G>A
  hgvsp: ENST00000354558.3:c.5664G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15896
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1948Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-46765991-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765991
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765991
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5841T>C
  hgvsp: ENST00000529230.1:c.5841T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5661T>C
  hgvsp: ENST00000354558.3:c.5661T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5661T>C
  hgvsp: ENST00000312055.5:c.5661T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5862T>C
  hgvsp: ENST00000415402.1:c.5862T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2820T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.556T>C
  hgvsp: ENST00000525896.1:c.556T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1947Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-46765998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46765998
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46765998
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2813G>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5654G>A
  hgvsp: ENSP00000346566.3:p.Arg1885Gln
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5654G>A
  hgvsp: ENSP00000310227.5:p.Arg1885Gln
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.549G>A
  hgvsp: ENSP00000434523.1:p.Arg184Gln
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5855G>A
  hgvsp: ENSP00000395302.1:p.Arg1952Gln
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5834G>A
  hgvsp: ENSP00000432768.1:p.Arg1945Gln
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5054
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1945Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

11-46766003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766003
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766003
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5850A>G
  hgvsp: ENST00000415402.1:c.5850A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.544A>G
  hgvsp: ENST00000525896.1:c.544A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5649A>G
  hgvsp: ENST00000312055.5:c.5649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2808A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5829A>G
  hgvsp: ENST00000529230.1:c.5829A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5649A>G
  hgvsp: ENST00000354558.3:c.5649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19134
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1943Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

11-46766005-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766005
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766005
    reference: chr 11
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5647C>T
  hgvsp: ENSP00000346566.3:p.Arg1883Ter
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2806C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5647C>T
  hgvsp: ENSP00000310227.5:p.Arg1883Ter
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5848C>T
  hgvsp: ENSP00000395302.1:p.Arg1950Ter
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5827C>T
  hgvsp: ENSP00000432768.1:p.Arg1943Ter
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.542C>T
  hgvsp: ENSP00000434523.1:p.Arg182Ter
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15894
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19135
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1943Ter
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

11-46766011-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766011
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766011
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.536A>G
  hgvsp: ENSP00000434523.1:p.Ile180Val
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2800A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5641A>G
  hgvsp: ENSP00000310227.5:p.Ile1881Val
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5842A>G
  hgvsp: ENSP00000395302.1:p.Ile1948Val
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5641A>G
  hgvsp: ENSP00000346566.3:p.Ile1881Val
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5821A>G
  hgvsp: ENSP00000432768.1:p.Ile1941Val
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile1941Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-46766026-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766026
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766026
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5626T>C
  hgvsp: ENST00000312055.5:c.5626T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5827T>C
  hgvsp: ENST00000415402.1:c.5827T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5806T>C
  hgvsp: ENST00000529230.1:c.5806T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2785T>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5626T>C
  hgvsp: ENST00000354558.3:c.5626T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.521T>C
  hgvsp: ENST00000525896.1:c.521T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15892
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1936Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-46766032-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766032
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766032
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2779G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5821G>T
  hgvsp: ENSP00000395302.1:p.Val1941Phe
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5620G>T
  hgvsp: ENSP00000346566.3:p.Val1874Phe
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5800G>T
  hgvsp: ENSP00000432768.1:p.Val1934Phe
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5620G>T
  hgvsp: ENSP00000310227.5:p.Val1874Phe
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.515G>T
  hgvsp: ENSP00000434523.1:p.Val173Phe
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val1934Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

11-46766037-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766037
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766037
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5615C>T
  hgvsp: ENSP00000346566.3:p.Pro1872Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5615C>T
  hgvsp: ENSP00000310227.5:p.Pro1872Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5795C>T
  hgvsp: ENSP00000432768.1:p.Pro1932Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.510C>T
  hgvsp: ENSP00000434523.1:p.Pro171Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2774C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5816C>T
  hgvsp: ENSP00000395302.1:p.Pro1939Leu
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro1932Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

11-46766045-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766045
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766045
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5607A>G
  hgvsp: ENST00000354558.3:c.5607A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5808A>G
  hgvsp: ENST00000415402.1:c.5808A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.502A>G
  hgvsp: ENST00000525896.1:c.502A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2766A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5607A>G
  hgvsp: ENST00000312055.5:c.5607A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5787A>G
  hgvsp: ENST00000529230.1:c.5787A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu1929Glu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-46766048-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766048
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766048
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5805A>G
  hgvsp: ENST00000415402.1:c.5805A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2763A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.499A>G
  hgvsp: ENST00000525896.1:c.499A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5604A>G
  hgvsp: ENST00000354558.3:c.5604A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5784A>G
  hgvsp: ENST00000529230.1:c.5784A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5604A>G
  hgvsp: ENST00000312055.5:c.5604A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1928Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

11-46766055-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766055
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766055
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5597A>G
  hgvsp: ENSP00000346566.3:p.Asn1866Ser
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2756A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5597A>G
  hgvsp: ENSP00000310227.5:p.Asn1866Ser
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.492A>G
  hgvsp: ENSP00000434523.1:p.Asn165Ser
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5798A>G
  hgvsp: ENSP00000395302.1:p.Asn1933Ser
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5777A>G
  hgvsp: ENSP00000432768.1:p.Asn1926Ser
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19143
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1926Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

11-46766056-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766056
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766056
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.491A>C
  hgvsp: ENSP00000434523.1:p.Asn165His
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5797A>C
  hgvsp: ENSP00000395302.1:p.Asn1933His
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5776A>C
  hgvsp: ENSP00000432768.1:p.Asn1926His
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5596A>C
  hgvsp: ENSP00000346566.3:p.Asn1866His
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5596A>C
  hgvsp: ENSP00000310227.5:p.Asn1866His
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2755A>C
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn1926His
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

11-46766059-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766059
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766059
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.488A>G
  hgvsp: ENSP00000434523.1:p.Thr164Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5593A>G
  hgvsp: ENSP00000310227.5:p.Thr1865Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5773A>G
  hgvsp: ENSP00000432768.1:p.Thr1925Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2752A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5593A>G
  hgvsp: ENSP00000346566.3:p.Thr1865Ala
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5794A>G
  hgvsp: ENSP00000395302.1:p.Thr1932Ala
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1925Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

11-46766060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766060
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766060
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5592C>T
  hgvsp: ENST00000354558.3:c.5592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5793C>T
  hgvsp: ENST00000415402.1:c.5793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.487C>T
  hgvsp: ENST00000525896.1:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5772C>T
  hgvsp: ENST00000529230.1:c.5772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5592C>T
  hgvsp: ENST00000312055.5:c.5592C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2751C>T
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn1924Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

11-46766078-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766078
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766078
    reference: chr 11
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2733A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.469A>G
  hgvsp: ENST00000525896.1:c.469A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5574A>G
  hgvsp: ENST00000312055.5:c.5574A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5775A>G
  hgvsp: ENST00000415402.1:c.5775A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5754A>G
  hgvsp: ENST00000529230.1:c.5754A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5574A>G
  hgvsp: ENST00000354558.3:c.5574A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1918Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

11-46766091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766091
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766091
    reference: chr 11
allele count: 58
allele frequency: 4.778224477690635e-4
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5762C>T
  hgvsp: ENSP00000395302.1:p.Thr1921Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5741C>T
  hgvsp: ENSP00000432768.1:p.Thr1914Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5561C>T
  hgvsp: ENSP00000310227.5:p.Thr1854Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.456C>T
  hgvsp: ENSP00000434523.1:p.Thr153Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5561C>T
  hgvsp: ENSP00000346566.3:p.Thr1854Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2720C>T
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15891
  bin: 9.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1914Met
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/11-46766098-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766098
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766098
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5755G>T
  hgvsp: ENSP00000395302.1:p.Val1919Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5734G>T
  hgvsp: ENSP00000432768.1:p.Val1912Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5554G>T
  hgvsp: ENSP00000346566.3:p.Val1852Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.449G>T
  hgvsp: ENSP00000434523.1:p.Val151Leu
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2713G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5554G>T
  hgvsp: ENSP00000310227.5:p.Val1852Leu
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15857
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val1912Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

11-46766098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766098
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766098
    reference: chr 11
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5554G>A
  hgvsp: ENSP00000346566.3:p.Val1852Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5734G>A
  hgvsp: ENSP00000432768.1:p.Val1912Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5554G>A
  hgvsp: ENSP00000310227.5:p.Val1852Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5755G>A
  hgvsp: ENSP00000395302.1:p.Val1919Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.449G>A
  hgvsp: ENSP00000434523.1:p.Val151Met
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2713G>A
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5042
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1912Met
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-46766100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766100
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766100
    reference: chr 11
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5552G>A
  hgvsp: ENSP00000346566.3:p.Cys1851Tyr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5732G>A
  hgvsp: ENSP00000432768.1:p.Cys1911Tyr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5753G>A
  hgvsp: ENSP00000395302.1:p.Cys1918Tyr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5552G>A
  hgvsp: ENSP00000310227.5:p.Cys1851Tyr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.447G>A
  hgvsp: ENSP00000434523.1:p.Cys150Tyr
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2711G>A
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15852
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Cys1911Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

11-46766124-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766124
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766124
    reference: chr 11
allele count: 10
allele frequency: 8.248783304462591e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5528T>A
  hgvsp: ENSP00000346566.3:p.Ile1843Asn
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.423T>A
  hgvsp: ENSP00000434523.1:p.Ile142Asn
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5729T>A
  hgvsp: ENSP00000395302.1:p.Ile1910Asn
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5708T>A
  hgvsp: ENSP00000432768.1:p.Ile1903Asn
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5528T>A
  hgvsp: ENSP00000310227.5:p.Ile1843Asn
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2687T>A
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15851
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5031
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile1903Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

11-46766135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766135
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766135
    reference: chr 11
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-8C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-8C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-8C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-8C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-8C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-8C>T
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5026
  bin: 7.75e1
  variant carriers: 0
hgvs: c.5705-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

11-46766135-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766135
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766135
    reference: chr 11
allele count: 3
allele frequency: 2.483238142537869e-5
allele num: 120810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-8C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-8C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-8C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-8C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-8C>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-8C>G
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: c.5705-8C>G
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

11-46766140-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766140
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766140
    reference: chr 11
allele count: 2
allele frequency: 1.658869977771142e-5
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-13T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-13T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-13T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-13T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-13T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-13T>A
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15831
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

11-46766143-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766143
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766143
    reference: chr 11
allele count: 1
allele frequency: 8.301235223801302e-6
allele num: 120464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-16A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-16A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-16A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-16A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-16A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-16A>G
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

11-46766145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766145
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766145
    reference: chr 11
allele count: 4
allele frequency: 3.321100612743063e-5
allele num: 120442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-18C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-18C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-18C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-18C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-18C>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-18C>T
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15829
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3622
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

11-46766160-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766160
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766160
    reference: chr 11
allele count: 6
allele frequency: 5.012447578152412e-5
allele num: 119702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-33A>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-33A>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-33A>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-33A>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-33A>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-33A>C
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15818
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

11-46766162-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766162
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766162
    reference: chr 11
allele count: 1
allele frequency: 8.355196096452384e-6
allele num: 119686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-35A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-35A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-35A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-35A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-35A>G
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-35A>G
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13820
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2826
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

11-46766167-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766167
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766167
    reference: chr 11
allele count: 1
allele frequency: 8.372124175345769e-6
allele num: 119444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-40T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-40T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-40T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-40T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-40T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-40T>A
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10598
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-46766168-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766168
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766169
    reference: chr 11
allele count: 1
allele frequency: 8.380543729677181e-6
allele num: 119324
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-42dupT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-42dupT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-42dupT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-42dupT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-42dupT
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-42dupT
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10295
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

11-46766169-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766169
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766169
    reference: chr 11
allele count: 1
allele frequency: 8.386025527061704e-6
allele num: 119246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-42T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-42T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-42T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-42T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-42T>A
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-42T>A
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-46766170-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766170
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766171
    reference: chr 11
allele count: 1
allele frequency: 8.400678774845007e-6
allele num: 119038
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-44dupG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-44dupG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-44dupG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-44dupG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-44dupG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-44dupG
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15796
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

11-46766170-T-TCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766170
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766173
    reference: chr 11
allele count: 1
allele frequency: 8.400678774845007e-6
allele num: 119038
alternate allele: TCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-46_5525-44dupGGG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-46_5705-44dupGGG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-46_420-44dupGGG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-46_2684-44dupGGG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-46_5525-44dupGGG
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-46_5726-44dupGGG
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15796
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/11-46766171-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766171
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766171
    reference: chr 11
allele count: 1
allele frequency: 8.409580193756727e-6
allele num: 118912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-44G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-44G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-44G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-44G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-44G>T
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-44G>T
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-46766171-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46766171
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 46766171
    reference: chr 11
allele count: 1
allele frequency: 8.409580193756727e-6
allele num: 118912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000346566
  ensembl transcript: ENST00000354558
  gene symbol: CKAP5
  hgvsc: ENST00000354558.3:c.5525-44G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl transcript: ENST00000533413
  gene symbol: CKAP5
  hgvsc: ENST00000533413.1:n.2684-44G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000434523
  ensembl transcript: ENST00000525896
  gene symbol: CKAP5
  hgvsc: ENST00000525896.1:c.420-44G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000395302
  ensembl transcript: ENST00000415402
  gene symbol: CKAP5
  hgvsc: ENST00000415402.1:c.5726-44G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000432768
  ensembl transcript: ENST00000529230
  gene symbol: CKAP5
  hgvsc: ENST00000529230.1:c.5705-44G>C
  variant of: http://identifiers.org/hgnc/28959
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175216
  ensembl protein: ENSP00000310227
  ensembl transcript: ENST00000312055
  gene symbol: CKAP5
  hgvsc: ENST00000312055.5:c.5525-44G>C
  variant of: http://identifiers.org/hgnc/28959
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37051
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 2.907615e6

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

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

GenotypeQuality
all individuals: 3003
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37054
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 7.25e1
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: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.907598e6

MQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

VQSLOD
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.412e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-2

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 37055
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2880
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.907723e6

QD
type: SiteQuality
SIO_000300: 1.362e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 4.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.602e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 2886
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.986e0

DP
type: SiteQuality
SIO_000300: 2.908288e6

GenotypeQuality
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bin: 2.5e0
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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bin: 7.25e1
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: 908
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.673e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.195e0

QD
type: SiteQuality
SIO_000300: 9.09e0

MQRankSum
type: SiteQuality
SIO_000300: -9.18e-1

DP
type: SiteQuality
SIO_000300: 2.908282e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

FS
type: SiteQuality
SIO_000300: 2.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.563e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.063e0

DP
type: SiteQuality
SIO_000300: 2.908191e6

VQSLOD
type: SiteQuality
SIO_000300: -1.864e0

QD
type: SiteQuality
SIO_000300: 1.756e1

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37066
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 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: 908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 2.908387e6

FS
type: SiteQuality
SIO_000300: 5.273e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.342e0

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.87e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3507
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.4e-1

DP
type: SiteQuality
SIO_000300: 2.907706e6

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.094e0

FS
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.384e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2855
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.91085003455425e-4
allele num: 11576
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

FS
type: SiteQuality
SIO_000300: 1.103e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.907537e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

East Asian
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allele num: 8654
num of homozygotes: 0

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

Other
type: Population
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allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.661e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 8.993075331994364e-5
allele num: 66718
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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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: 6

GenotypeQuality
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variant carriers: 0

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

African
type: Population
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Latino
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South Asian
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European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.996041741633681e-5
allele num: 66696
num of homozygotes: 0

Other
type: Population
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East Asian
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.022e0

MQRankSum
type: SiteQuality
SIO_000300: -1.887e0

FS
type: SiteQuality
SIO_000300: 1.769e0

QD
type: SiteQuality
SIO_000300: 1.682e1

DP
type: SiteQuality
SIO_000300: 2.905015e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 6280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 1.3728e1

VQSLOD
type: SiteQuality
SIO_000300: -8.738e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.334e1

DP
type: SiteQuality
SIO_000300: 2.904128e6

GenotypeQuality
all individuals: 138
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2199
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.749e1

DP
type: SiteQuality
SIO_000300: 2.903704e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 6.218e0

VQSLOD
type: SiteQuality
SIO_000300: -1.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

GenotypeQuality
all individuals: 37086
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 2848
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2197
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.799532121648371e-4
allele num: 66684
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.416e1

DP
type: SiteQuality
SIO_000300: 2.903737e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.738e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

GenotypeQuality
all individuals: 6090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 16500
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.235e0

DP
type: SiteQuality
SIO_000300: 2.903248e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 9.599e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

QD
type: SiteQuality
SIO_000300: 6.32e0

MQ
type: SiteQuality
SIO_000300: 5.031e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

GenotypeQuality
all individuals: 2884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37087
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3261
bin: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.125e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
SIO_000300: 5.754e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 2.902529e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.335e1

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 3260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3010
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349730053989202e-4
allele num: 66680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.91323885240235e-4
allele num: 11572
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.092e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.596e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-2

DP
type: SiteQuality
SIO_000300: 2.902587e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 2914
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37101
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5608
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.263e0

DP
type: SiteQuality
SIO_000300: 2.902787e6

FS
type: SiteQuality
SIO_000300: 1.056e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.101e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
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variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4500
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

QD
type: SiteQuality
SIO_000300: 1.823e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 6.032e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

DP
type: SiteQuality
SIO_000300: 2.260889e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

GenotypeQuality
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bin: 6.25e1
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
all individuals: 377
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GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5090
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.503451587730356e-5
allele num: 66636
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

DP
type: SiteQuality
SIO_000300: 2.260728e6

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.509e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 2189
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variant carriers: 0

GenotypeQuality
all individuals: 17090
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.905619070785697e-4
allele num: 16444
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.369e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 1.824e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

DP
type: SiteQuality
SIO_000300: 2.259646e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
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GenotypeQuality
all individuals: 4451
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GenotypeQuality
all individuals: 5040
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.259585e6

VQSLOD
type: SiteQuality
SIO_000300: -1.946e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.101e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.02e0

QD
type: SiteQuality
SIO_000300: 1.322e1

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4448
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

DP
type: SiteQuality
SIO_000300: 2.261451e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

FS
type: SiteQuality
SIO_000300: 1.2924e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.632e1

VQSLOD
type: SiteQuality
SIO_000300: -1.476e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeQuality
all individuals: 3074
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4453
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.75e1
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: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.879e0

DP
type: SiteQuality
SIO_000300: 2.26182e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.884e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5028
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3612
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.528e0

DP
type: SiteQuality
SIO_000300: 2.264157e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.465e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: -1.896e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.595e0

QD
type: SiteQuality
SIO_000300: 1.277e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16138
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 3064
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.237e0

QD
type: SiteQuality
SIO_000300: 1.605e1

VQSLOD
type: SiteQuality
SIO_000300: -2.47e-1

DP
type: SiteQuality
SIO_000300: 2.266321e6

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 7175
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3615
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3060
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16136
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 16502
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

DP
type: SiteQuality
SIO_000300: 2.268098e6

QD
type: SiteQuality
SIO_000300: 1.167e1

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

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3616
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16139
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 4454
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5026
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 3.898050974512744e-4
allele num: 66700
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

DP
type: SiteQuality
SIO_000300: 2.270744e6

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

GenotypeQuality
all individuals: 4451
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16169
bin: 9.75e1
variant carriers: 360

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3065
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 26
allele frequency: 2.245638279495595e-3
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49748141041017e-5
allele num: 66704
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

African
type: Population
allele count: 330
allele frequency: 3.171247357293869e-2
allele num: 10406
num of homozygotes: 4

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.287483e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

VQSLOD
type: SiteQuality
SIO_000300: 6.16e0

QD
type: SiteQuality
SIO_000300: 1.48e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5045
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15943
bin: 9.75e1
variant carriers: 51

GenotypeQuality
all individuals: 18968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4464
bin: 8.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 50
allele frequency: 3.029201502483945e-3
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 2.261909e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.316e0

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7237
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19027
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3080
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.260145e6

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

FS
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.298e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

GenotypeQuality
all individuals: 2186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4465
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5047
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3619
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.506e0

DP
type: SiteQuality
SIO_000300: 2.259859e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.48e0

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 5047
bin: 7.75e1
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: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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VQSLOD
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SIO_000300: -7.036e-1

InbreedingCoeff
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BaseQRankSum
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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Latino
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South Asian
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African
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European (Non-Finnish)
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allele num: 66714
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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FS
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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Latino
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Other
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South Asian
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allele num: 16510
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.949e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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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East Asian
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African
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Other
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ReadPosRankSum
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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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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10406
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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 (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -5.88e-1

VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6614
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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European (Non-Finnish)
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allele num: 66738
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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African
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FS
type: SiteQuality
SIO_000300: 1.1508e1

DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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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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African
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66738
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South Asian
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East Asian
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Latino
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QD
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BaseQRankSum
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ClippingRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Other
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African
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Latino
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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South Asian
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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East Asian
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African
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

BaseQRankSum
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QD
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
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SIO_000300: 4.822e0

VQSLOD
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ReadPosRankSum
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GenotypeQuality
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bin: 9.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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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

FS
type: SiteQuality
SIO_000300: 6.832e0

MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: -5.961e0

GenotypeQuality
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bin: 9.25e1
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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variant carriers: 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

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.132e0

VQSLOD
type: SiteQuality
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MQRankSum
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MQ
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

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

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
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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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bin: 9.25e1
variant carriers: 0

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

African
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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 frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele num: 16512
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

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

Other
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allele frequency: 0.0e0
allele num: 908
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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.927e1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.519e1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

DP
type: SiteQuality
SIO_000300: 2.260593e6

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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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: 1
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allele num: 8654
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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

InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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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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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: 1

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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DP
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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: 6.25e1
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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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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

African
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allele num: 10406
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 66736
num of homozygotes: 0

African
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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MQ
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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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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Other
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num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 39
allele frequency: 5.845849446892706e-4
allele num: 66714
num of homozygotes: 0

African
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allele count: 14
allele frequency: 1.345377666730732e-3
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.262725e6

QD
type: SiteQuality
SIO_000300: 1.378e1

FS
type: SiteQuality
SIO_000300: 1.228e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

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
all individuals: 6
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.462e0

QD
type: SiteQuality
SIO_000300: 1.388e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.79e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.258383e6

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.388e1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.462e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.79e-2

DP
type: SiteQuality
SIO_000300: 2.258383e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

FS
type: SiteQuality
SIO_000300: 1.3962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.664e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.612e0

VQSLOD
type: SiteQuality
SIO_000300: -1.816e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

DP
type: SiteQuality
SIO_000300: 2.257985e6

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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bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.500240038406145e-4
allele num: 66656
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
SIO_000300: 2.254951e6

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.312e1

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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.181233774261343e-5
allele num: 16178
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 2.241234e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 9.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.36e0

VQSLOD
type: SiteQuality
SIO_000300: -1.429e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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bin: 9.25e1
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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8646
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.010869237948996e-5
allele num: 66426
num of homozygotes: 0

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

African
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allele count: 0
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allele num: 10402
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 6.24e-1

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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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66388
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Latino
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num of homozygotes: 0

East Asian
type: Population
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Other
type: Population
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African
type: Population
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South Asian
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allele frequency: 6.259389083625437e-5
allele num: 15976
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 4
allele frequency: 2.505951635133442e-4
allele num: 15962
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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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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East Asian
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InbreedingCoeff
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BaseQRankSum
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MQ
type: SiteQuality
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QD
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VQSLOD
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ClippingRankSum
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FS
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MQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15522
num of homozygotes: 0

European (Finnish)
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allele num: 6602
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East Asian
type: Population
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Other
type: Population
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allele frequency: 1.121076233183856e-3
allele num: 892
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African
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534873174713547e-5
allele num: 66154
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

FS
type: SiteQuality
SIO_000300: 4.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 2.161215e6

GenotypeQuality
all individuals: 2176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3612
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15813
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 1.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

QD
type: SiteQuality
SIO_000300: 1.744e1

VQSLOD
type: SiteQuality
SIO_000300: -1.473e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

DP
type: SiteQuality
SIO_000300: 2.160083e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.763e0

GenotypeQuality
all individuals: 3609
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4398
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66086
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.509569066527795e-5
allele num: 15362
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 5.84e0

VQSLOD
type: SiteQuality
SIO_000300: -1.427e0

DP
type: SiteQuality
SIO_000300: 2.141152e6

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
all individuals: 1107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
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variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5638
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.535947712418301e-5
allele num: 15300
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

DP
type: SiteQuality
SIO_000300: 2.135529e6

MQ
type: SiteQuality
SIO_000300: 6.049e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

QD
type: SiteQuality
SIO_000300: 1.302e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

GenotypeQuality
all individuals: 773
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4394
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15802
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15256
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.509e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.131236e6

MQRankSum
type: SiteQuality
SIO_000300: -9.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.302e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.169e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 2240
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11195
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4772
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
SIO_000300: 2.126649e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 876
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
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variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5543
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15138
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.439e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.126649e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
all individuals: 173
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variant carriers: 0

GenotypeQuality
all individuals: 5500
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1886
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variant carriers: 0

GenotypeQuality
all individuals: 10720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4750
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15058
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 8.16e0

DP
type: SiteQuality
SIO_000300: 2.122284e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3