9-123210416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123210416
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123210416
    reference: chr 9
allele count: 5
allele frequency: 4.123099251245176e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2794-12G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2102-12G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.74-12G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2794-12G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*621-12G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2794-12G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1618-12G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.976-12G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2698-12G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24130
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-123210418-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123210418
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123210418
    reference: chr 9
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2698-14A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1618-14A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2794-14A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2102-14A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.74-14A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*621-14A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2794-14A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2794-14A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.976-14A>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5494
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-123210432-TAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123210432
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123210430
    reference: chr 9
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2794-30_2794-29delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2102-30_2102-29delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2794-30_2794-29delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.74-30_74-29delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2698-30_2698-29delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.976-30_976-29delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*621-30_*621-29delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2794-30_2794-29delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1618-30_*1618-29delGT
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12439
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10788
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: TAC
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-123210441-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123210441
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123210439
    reference: chr 9
allele count: 3
allele frequency: 2.477005135657315e-5
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1618-39_*1618-38delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*621-39_*621-38delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2794-39_2794-38delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.74-39_74-38delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2102-39_2102-38delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2794-39_2794-38delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.976-39_976-38delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2794-39_2794-38delGT
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2698-39_2698-38delGT
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9925
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: AAC
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

9-123210446-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123210446
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123210446
    reference: chr 9
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1618-42T>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2794-42T>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2794-42T>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2698-42T>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*621-42T>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2102-42T>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.74-42T>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2794-42T>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.976-42T>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24098
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

9-123210447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123210447
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123210447
    reference: chr 9
allele count: 60
allele frequency: 4.959251483642736e-4
allele num: 120986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2794-43G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1618-43G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*621-43G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2102-43G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2794-43G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2794-43G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.74-43G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.976-43G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2698-43G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

9-123210455-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123210455
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123210455
    reference: chr 9
allele count: 2
allele frequency: 1.654998924250699e-5
allele num: 120846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2698-51C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2794-51C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.976-51C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1618-51C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2102-51C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*621-51C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.74-51C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2794-51C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2794-51C>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9695
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

9-123215691-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215691
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215691
    reference: chr 9
allele count: 1
allele frequency: 8.691419830343484e-6
allele num: 115056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2793+43A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2101+43A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.975+43A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*620+43A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2793+43A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1617+43A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+5037A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2697+43A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2793+43A>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

9-123215696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215696
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215696
    reference: chr 9
allele count: 1
allele frequency: 8.670470112889521e-6
allele num: 115334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2697+38T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*620+38T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.975+38T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2793+38T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1617+38T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2793+38T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2793+38T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2101+38T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+5032T>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-123215698-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215698
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215698
    reference: chr 9
allele count: 11
allele frequency: 9.523644612214507e-5
allele num: 115502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2697+36T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+5030T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2101+36T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2793+36T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2793+36T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2793+36T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.975+36T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*620+36T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1617+36T>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16288
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20119
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

9-123215699-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215699
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215699
    reference: chr 9
allele count: 274
allele frequency: 2.370488285981244e-3
allele num: 115588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*620+35T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+5029T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2793+35T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1617+35T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.975+35T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2793+35T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2793+35T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2101+35T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2697+35T>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 3.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 4.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-123215716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215716
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215716
    reference: chr 9
allele count: 2
allele frequency: 1.699986400108799e-5
allele num: 117648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*620+18A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2101+18A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2793+18A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2793+18A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2793+18A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1617+18A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.975+18A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+5012A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2697+18A>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7570
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

9-123215721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215721
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215721
    reference: chr 9
allele count: 11
allele frequency: 9.285678107747632e-5
allele num: 118462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2101+13A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1617+13A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+5007A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2697+13A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*620+13A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2793+13A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2793+13A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.975+13A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2793+13A>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7583
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

9-123215735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215735
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215735
    reference: chr 9
allele count: 10
allele frequency: 8.363861427543869e-5
allele num: 119562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4993G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2100G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.974G>A
  hgvsp: ENSP00000400395.1:p.Arg325Lys
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2792G>A
  hgvsp: ENSP00000353317.4:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2792G>A
  hgvsp: ENSP00000352258.3:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2792G>A
  hgvsp: ENSP00000343818.4:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1616G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2696G>A
  hgvsp: ENSP00000354065.3:p.Arg899Lys
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*619G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20365
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg931Lys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

9-123215747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215747
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215747
    reference: chr 9
allele count: 1
allele frequency: 8.309098462816784e-6
allele num: 120350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2780G>A
  hgvsp: ENSP00000353317.4:p.Gly927Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.962G>A
  hgvsp: ENSP00000400395.1:p.Gly321Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4981G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2780G>A
  hgvsp: ENSP00000343818.4:p.Gly927Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*607G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2780G>A
  hgvsp: ENSP00000352258.3:p.Gly927Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2088G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2684G>A
  hgvsp: ENSP00000354065.3:p.Gly895Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1604G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly927Asp
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: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

9-123215750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215750
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215750
    reference: chr 9
allele count: 3
allele frequency: 2.488593944421402e-5
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*604C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4978C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1601C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2777C>T
  hgvsp: ENSP00000353317.4:p.Pro926Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2681C>T
  hgvsp: ENSP00000354065.3:p.Pro894Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2777C>T
  hgvsp: ENSP00000343818.4:p.Pro926Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.959C>T
  hgvsp: ENSP00000400395.1:p.Pro320Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2085C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2777C>T
  hgvsp: ENSP00000352258.3:p.Pro926Leu
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25410
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro926Leu
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

9-123215768-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215768
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215768
    reference: chr 9
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4960C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2067C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2759C>T
  hgvsp: ENSP00000352258.3:p.Ala920Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*586C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.941C>T
  hgvsp: ENSP00000400395.1:p.Ala314Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2759C>T
  hgvsp: ENSP00000343818.4:p.Ala920Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2759C>T
  hgvsp: ENSP00000353317.4:p.Ala920Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1583C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2663C>T
  hgvsp: ENSP00000354065.3:p.Ala888Val
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala920Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

9-123215778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215778
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215778
    reference: chr 9
allele count: 24
allele frequency: 1.979610016826685e-4
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1573G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2749G>A
  hgvsp: ENSP00000343818.4:p.Gly917Arg
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2057G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4950G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.931G>A
  hgvsp: ENSP00000400395.1:p.Gly311Arg
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*576G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2749G>A
  hgvsp: ENSP00000353317.4:p.Gly917Arg
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2653G>A
  hgvsp: ENSP00000354065.3:p.Gly885Arg
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2749G>A
  hgvsp: ENSP00000352258.3:p.Gly917Arg
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly917Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-123215782-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215782
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215782
    reference: chr 9
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4946G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*572G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2745G>T
  hgvsp: ENST00000360190.4:c.2745G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1569G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.927G>T
  hgvsp: ENST00000416449.1:c.927G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2745G>T
  hgvsp: ENST00000359309.3:c.2745G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2649G>T
  hgvsp: ENST00000360822.3:c.2649G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2745G>T
  hgvsp: ENST00000349780.4:c.2745G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2053G>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val915Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

9-123215783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215783
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215783
    reference: chr 9
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2648T>C
  hgvsp: ENSP00000354065.3:p.Val883Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*571T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1568T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2744T>C
  hgvsp: ENSP00000343818.4:p.Val915Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2744T>C
  hgvsp: ENSP00000353317.4:p.Val915Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4945T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.926T>C
  hgvsp: ENSP00000400395.1:p.Val309Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2744T>C
  hgvsp: ENSP00000352258.3:p.Val915Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2052T>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val915Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

9-123215788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215788
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215788
    reference: chr 9
allele count: 6
allele frequency: 4.945516888940176e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*566C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2739C>T
  hgvsp: ENST00000359309.3:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2739C>T
  hgvsp: ENST00000349780.4:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1563C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2739C>T
  hgvsp: ENST00000360190.4:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4940C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.921C>T
  hgvsp: ENST00000416449.1:c.921C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2643C>T
  hgvsp: ENST00000360822.3:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2047C>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His913His
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

9-123215805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215805
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215805
    reference: chr 9
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2722C>T
  hgvsp: ENSP00000353317.4:p.Arg908Trp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2030C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*549C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4923C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2722C>T
  hgvsp: ENSP00000352258.3:p.Arg908Trp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.904C>T
  hgvsp: ENSP00000400395.1:p.Arg302Trp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2626C>T
  hgvsp: ENSP00000354065.3:p.Arg876Trp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2722C>T
  hgvsp: ENSP00000343818.4:p.Arg908Trp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1546C>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg908Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP

9-123215807-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215807
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215807
    reference: chr 9
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*547A>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2720A>T
  hgvsp: ENSP00000353317.4:p.His907Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2720A>T
  hgvsp: ENSP00000343818.4:p.His907Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2624A>T
  hgvsp: ENSP00000354065.3:p.His875Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2028A>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1544A>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4921A>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.902A>T
  hgvsp: ENSP00000400395.1:p.His301Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2720A>T
  hgvsp: ENSP00000352258.3:p.His907Leu
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His907Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

9-123215811-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215811
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215811
    reference: chr 9
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4917G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2716G>C
  hgvsp: ENSP00000352258.3:p.Glu906Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*543G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2716G>C
  hgvsp: ENSP00000353317.4:p.Glu906Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2620G>C
  hgvsp: ENSP00000354065.3:p.Glu874Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2024G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.898G>C
  hgvsp: ENSP00000400395.1:p.Glu300Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2716G>C
  hgvsp: ENSP00000343818.4:p.Glu906Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1540G>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu906Gln
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

9-123215813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215813
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215813
    reference: chr 9
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2714C>T
  hgvsp: ENSP00000343818.4:p.Ala905Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4915C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2714C>T
  hgvsp: ENSP00000353317.4:p.Ala905Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.896C>T
  hgvsp: ENSP00000400395.1:p.Ala299Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2714C>T
  hgvsp: ENSP00000352258.3:p.Ala905Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2022C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2618C>T
  hgvsp: ENSP00000354065.3:p.Ala873Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*541C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1538C>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala905Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-123215814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215814
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215814
    reference: chr 9
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2713G>T
  hgvsp: ENSP00000343818.4:p.Ala905Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2617G>T
  hgvsp: ENSP00000354065.3:p.Ala873Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2713G>T
  hgvsp: ENSP00000353317.4:p.Ala905Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2021G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2713G>T
  hgvsp: ENSP00000352258.3:p.Ala905Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.895G>T
  hgvsp: ENSP00000400395.1:p.Ala299Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1537G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*540G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4914G>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15837
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala905Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

9-123215814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215814
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215814
    reference: chr 9
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*540G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4914G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2713G>A
  hgvsp: ENSP00000343818.4:p.Ala905Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2713G>A
  hgvsp: ENSP00000352258.3:p.Ala905Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2021G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2617G>A
  hgvsp: ENSP00000354065.3:p.Ala873Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1537G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2713G>A
  hgvsp: ENSP00000353317.4:p.Ala905Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.895G>A
  hgvsp: ENSP00000400395.1:p.Ala299Thr
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala905Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

9-123215815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215815
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215815
    reference: chr 9
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.894C>T
  hgvsp: ENST00000416449.1:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2616C>T
  hgvsp: ENST00000360822.3:c.2616C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1536C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*539C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2712C>T
  hgvsp: ENST00000359309.3:c.2712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2020C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2712C>T
  hgvsp: ENST00000360190.4:c.2712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2712C>T
  hgvsp: ENST00000349780.4:c.2712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4913C>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser904Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

9-123215820-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215820
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215820
    reference: chr 9
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2015C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.889C>G
  hgvsp: ENSP00000400395.1:p.Leu297Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4908C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2707C>G
  hgvsp: ENSP00000352258.3:p.Leu903Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2707C>G
  hgvsp: ENSP00000353317.4:p.Leu903Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*534C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2611C>G
  hgvsp: ENSP00000354065.3:p.Leu871Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2707C>G
  hgvsp: ENSP00000343818.4:p.Leu903Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1531C>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu903Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/9-123215833-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215833
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215833
    reference: chr 9
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1518G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4895G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2694G>T
  hgvsp: ENST00000360190.4:c.2694G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2694G>T
  hgvsp: ENST00000349780.4:c.2694G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.876G>T
  hgvsp: ENST00000416449.1:c.876G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2598G>T
  hgvsp: ENST00000360822.3:c.2598G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*521G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2002G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2694G>T
  hgvsp: ENST00000359309.3:c.2694G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15855
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro898Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

9-123215834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215834
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215834
    reference: chr 9
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*520C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2597C>T
  hgvsp: ENSP00000354065.3:p.Pro866Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2693C>T
  hgvsp: ENSP00000353317.4:p.Pro898Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2693C>T
  hgvsp: ENSP00000343818.4:p.Pro898Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.875C>T
  hgvsp: ENSP00000400395.1:p.Pro292Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1517C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2693C>T
  hgvsp: ENSP00000352258.3:p.Pro898Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.2001C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4894C>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro898Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

9-123215846-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215846
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215846
    reference: chr 9
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2681G>C
  hgvsp: ENSP00000352258.3:p.Trp894Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1505G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.863G>C
  hgvsp: ENSP00000400395.1:p.Trp288Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4882G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2681G>C
  hgvsp: ENSP00000343818.4:p.Trp894Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2681G>C
  hgvsp: ENSP00000353317.4:p.Trp894Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*508G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1989G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2585G>C
  hgvsp: ENSP00000354065.3:p.Trp862Ser
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Trp894Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-123215850-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215850
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215850
    reference: chr 9
allele count: 12
allele frequency: 9.884190237714775e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2677G>T
  hgvsp: ENSP00000352258.3:p.Ala893Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4878G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2677G>T
  hgvsp: ENSP00000343818.4:p.Ala893Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1501G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2581G>T
  hgvsp: ENSP00000354065.3:p.Ala861Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1985G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.859G>T
  hgvsp: ENSP00000400395.1:p.Ala287Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2677G>T
  hgvsp: ENSP00000353317.4:p.Ala893Ser
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*504G>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15880
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  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: 8081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala893Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-123215853-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215853
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215853
    reference: chr 9
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2578G>C
  hgvsp: ENSP00000354065.3:p.Glu860Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1982G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.856G>C
  hgvsp: ENSP00000400395.1:p.Glu286Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4875G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1498G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2674G>C
  hgvsp: ENSP00000352258.3:p.Glu892Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2674G>C
  hgvsp: ENSP00000353317.4:p.Glu892Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*501G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2674G>C
  hgvsp: ENSP00000343818.4:p.Glu892Gln
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu892Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

9-123215861-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215861
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215861
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2666C>A
  hgvsp: ENSP00000352258.3:p.Ala889Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1490C>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2666C>A
  hgvsp: ENSP00000353317.4:p.Ala889Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.848C>A
  hgvsp: ENSP00000400395.1:p.Ala283Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2570C>A
  hgvsp: ENSP00000354065.3:p.Ala857Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1974C>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*493C>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2666C>A
  hgvsp: ENSP00000343818.4:p.Ala889Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4867C>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala889Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/9-123215866-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215866
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215866
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*488T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2565T>G
  hgvsp: ENSP00000354065.3:p.His855Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1485T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2661T>G
  hgvsp: ENSP00000352258.3:p.His887Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2661T>G
  hgvsp: ENSP00000343818.4:p.His887Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1969T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4862T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2661T>G
  hgvsp: ENSP00000353317.4:p.His887Gln
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.843T>G
  hgvsp: ENSP00000400395.1:p.His281Gln
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His887Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-123215866-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215866
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215866
    reference: chr 9
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2565T>C
  hgvsp: ENST00000360822.3:c.2565T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2661T>C
  hgvsp: ENST00000360190.4:c.2661T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2661T>C
  hgvsp: ENST00000349780.4:c.2661T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1485T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.843T>C
  hgvsp: ENST00000416449.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1969T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4862T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2661T>C
  hgvsp: ENST00000359309.3:c.2661T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*488T>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His887His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

9-123215867-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215867
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215867
    reference: chr 9
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*487A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4861A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2660A>C
  hgvsp: ENSP00000352258.3:p.His887Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2660A>C
  hgvsp: ENSP00000343818.4:p.His887Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2564A>C
  hgvsp: ENSP00000354065.3:p.His855Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2660A>C
  hgvsp: ENSP00000353317.4:p.His887Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.842A>C
  hgvsp: ENSP00000400395.1:p.His281Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1968A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1484A>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8091
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His887Pro
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD

9-123215871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215871
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215871
    reference: chr 9
allele count: 24
allele frequency: 1.976740355154351e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1964A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2560A>G
  hgvsp: ENSP00000354065.3:p.Lys854Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2656A>G
  hgvsp: ENSP00000343818.4:p.Lys886Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1480A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.838A>G
  hgvsp: ENSP00000400395.1:p.Lys280Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2656A>G
  hgvsp: ENSP00000353317.4:p.Lys886Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*483A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2656A>G
  hgvsp: ENSP00000352258.3:p.Lys886Glu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4857A>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys886Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

9-123215872-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215872
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215872
    reference: chr 9
allele count: 483
allele frequency: 3.978321033210332e-3
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2655C>G
  hgvsp: ENSP00000343818.4:p.Phe885Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2559C>G
  hgvsp: ENSP00000354065.3:p.Phe853Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2655C>G
  hgvsp: ENSP00000353317.4:p.Phe885Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1479C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.837C>G
  hgvsp: ENSP00000400395.1:p.Phe279Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*482C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2655C>G
  hgvsp: ENSP00000352258.3:p.Phe885Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1963C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4856C>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 9.75e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe885Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

9-123215882-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215882
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215882
    reference: chr 9
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2645T>C
  hgvsp: ENSP00000353317.4:p.Leu882Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1469T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4846T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2549T>C
  hgvsp: ENSP00000354065.3:p.Leu850Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.827T>C
  hgvsp: ENSP00000400395.1:p.Leu276Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2645T>C
  hgvsp: ENSP00000352258.3:p.Leu882Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1953T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*472T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2645T>C
  hgvsp: ENSP00000343818.4:p.Leu882Pro
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu882Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

9-123215883-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215883
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215883
    reference: chr 9
allele count: 5
allele frequency: 4.11834475487612e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2644C>G
  hgvsp: ENSP00000352258.3:p.Leu882Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2548C>G
  hgvsp: ENSP00000354065.3:p.Leu850Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1952C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1468C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4845C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2644C>G
  hgvsp: ENSP00000353317.4:p.Leu882Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.826C>G
  hgvsp: ENSP00000400395.1:p.Leu276Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2644C>G
  hgvsp: ENSP00000343818.4:p.Leu882Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*471C>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26070
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu882Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

9-123215884-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215884
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215884
    reference: chr 9
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2547C>T
  hgvsp: ENST00000360822.3:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1951C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2643C>T
  hgvsp: ENST00000359309.3:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2643C>T
  hgvsp: ENST00000360190.4:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4844C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*470C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2643C>T
  hgvsp: ENST00000349780.4:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.825C>T
  hgvsp: ENST00000416449.1:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1467C>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp881Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

9-123215886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215886
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215886
    reference: chr 9
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2545G>A
  hgvsp: ENSP00000354065.3:p.Asp849Asn
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1949G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2641G>A
  hgvsp: ENSP00000353317.4:p.Asp881Asn
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1465G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*468G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2641G>A
  hgvsp: ENSP00000343818.4:p.Asp881Asn
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.823G>A
  hgvsp: ENSP00000400395.1:p.Asp275Asn
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2641G>A
  hgvsp: ENSP00000352258.3:p.Asp881Asn
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4842G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp881Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-123215887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215887
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215887
    reference: chr 9
allele count: 5
allele frequency: 4.11820907323823e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2544C>T
  hgvsp: ENST00000360822.3:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1948C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.822C>T
  hgvsp: ENST00000416449.1:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2640C>T
  hgvsp: ENST00000359309.3:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4841C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*467C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2640C>T
  hgvsp: ENST00000360190.4:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1464C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2640C>T
  hgvsp: ENST00000349780.4:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  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
hgvs: p.Gly880Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

9-123215891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215891
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215891
    reference: chr 9
allele count: 11
allele frequency: 9.060059961124106e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1944A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.818A>G
  hgvsp: ENSP00000400395.1:p.Glu273Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2636A>G
  hgvsp: ENSP00000353317.4:p.Glu879Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2636A>G
  hgvsp: ENSP00000343818.4:p.Glu879Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2636A>G
  hgvsp: ENSP00000352258.3:p.Glu879Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*463A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1460A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2540A>G
  hgvsp: ENSP00000354065.3:p.Glu847Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4837A>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3655
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu879Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

9-123215893-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215893
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215893
    reference: chr 9
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1942G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2634G>C
  hgvsp: ENST00000359309.3:c.2634G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2634G>C
  hgvsp: ENST00000349780.4:c.2634G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*461G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1458G>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.816G>C
  hgvsp: ENST00000416449.1:c.816G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2634G>C
  hgvsp: ENST00000360190.4:c.2634G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2538G>C
  hgvsp: ENST00000360822.3:c.2538G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4835G>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr878Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

9-123215894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215894
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215894
    reference: chr 9
allele count: 4
allele frequency: 3.294730079238259e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*460C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1941C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1457C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4834C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2633C>T
  hgvsp: ENSP00000343818.4:p.Thr878Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2537C>T
  hgvsp: ENSP00000354065.3:p.Thr846Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2633C>T
  hgvsp: ENSP00000353317.4:p.Thr878Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.815C>T
  hgvsp: ENSP00000400395.1:p.Thr272Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2633C>T
  hgvsp: ENSP00000352258.3:p.Thr878Met
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  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: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr878Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

9-123215916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215916
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215916
    reference: chr 9
allele count: 9
allele frequency: 7.413020558777017e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2611G>A
  hgvsp: ENSP00000353317.4:p.Ala871Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1435G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4812G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2611G>A
  hgvsp: ENSP00000343818.4:p.Ala871Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.793G>A
  hgvsp: ENSP00000400395.1:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2611G>A
  hgvsp: ENSP00000352258.3:p.Ala871Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1919G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2515G>A
  hgvsp: ENSP00000354065.3:p.Ala839Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*438G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala871Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS

9-123215925-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215925
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215925
    reference: chr 9
allele count: 10
allele frequency: 8.236689509752241e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*429C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.784C>G
  hgvsp: ENSP00000400395.1:p.Leu262Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2602C>G
  hgvsp: ENSP00000343818.4:p.Leu868Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1426C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2506C>G
  hgvsp: ENSP00000354065.3:p.Leu836Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2602C>G
  hgvsp: ENSP00000353317.4:p.Leu868Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4803C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1910C>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2602C>G
  hgvsp: ENSP00000352258.3:p.Leu868Val
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  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
hgvs: p.Leu868Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

9-123215936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215936
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215936
    reference: chr 9
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2591C>T
  hgvsp: ENSP00000352258.3:p.Pro864Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.773C>T
  hgvsp: ENSP00000400395.1:p.Pro258Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*418C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4792C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1899C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2495C>T
  hgvsp: ENSP00000354065.3:p.Pro832Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1415C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2591C>T
  hgvsp: ENSP00000353317.4:p.Pro864Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2591C>T
  hgvsp: ENSP00000343818.4:p.Pro864Leu
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7670
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro864Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

9-123215938-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215938
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215938
    reference: chr 9
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.771G>A
  hgvsp: ENST00000416449.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2589G>A
  hgvsp: ENST00000349780.4:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4790G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*416G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2493G>A
  hgvsp: ENST00000360822.3:c.2493G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2589G>A
  hgvsp: ENST00000360190.4:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2589G>A
  hgvsp: ENST00000359309.3:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1413G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1897G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val863Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

9-123215940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215940
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215940
    reference: chr 9
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2491G>A
  hgvsp: ENSP00000354065.3:p.Val831Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2587G>A
  hgvsp: ENSP00000352258.3:p.Val863Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4788G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1411G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2587G>A
  hgvsp: ENSP00000353317.4:p.Val863Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.769G>A
  hgvsp: ENSP00000400395.1:p.Val257Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2587G>A
  hgvsp: ENSP00000343818.4:p.Val863Met
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1895G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*414G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val863Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

9-123215948-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215948
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215948
    reference: chr 9
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2579C>T
  hgvsp: ENSP00000353317.4:p.Ala860Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.761C>T
  hgvsp: ENSP00000400395.1:p.Ala254Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2579C>T
  hgvsp: ENSP00000343818.4:p.Ala860Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*406C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2483C>T
  hgvsp: ENSP00000354065.3:p.Ala828Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2579C>T
  hgvsp: ENSP00000352258.3:p.Ala860Val
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1887C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1403C>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4780C>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala860Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-123215954-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215954
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215954
    reference: chr 9
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2573T>G
  hgvsp: ENSP00000353317.4:p.Val858Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.755T>G
  hgvsp: ENSP00000400395.1:p.Val252Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2573T>G
  hgvsp: ENSP00000352258.3:p.Val858Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4774T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2573T>G
  hgvsp: ENSP00000343818.4:p.Val858Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*400T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1397T>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2477T>G
  hgvsp: ENSP00000354065.3:p.Val826Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1881T>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7646
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Val858Gly
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

9-123215956-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215956
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215956
    reference: chr 9
allele count: 33
allele frequency: 2.718152315371563e-4
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4772A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2475A>G
  hgvsp: ENST00000360822.3:c.2475A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1879A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*398A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1395A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2571A>G
  hgvsp: ENST00000360190.4:c.2571A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2571A>G
  hgvsp: ENST00000359309.3:c.2571A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.753A>G
  hgvsp: ENST00000416449.1:c.753A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2571A>G
  hgvsp: ENST00000349780.4:c.2571A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu857Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

9-123215959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215959
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215959
    reference: chr 9
allele count: 181
allele frequency: 1.490840801265156e-3
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1876G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4769G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*395G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2568G>A
  hgvsp: ENST00000360190.4:c.2568G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2472G>A
  hgvsp: ENST00000360822.3:c.2472G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2568G>A
  hgvsp: ENST00000349780.4:c.2568G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.750G>A
  hgvsp: ENST00000416449.1:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1392G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2568G>A
  hgvsp: ENST00000359309.3:c.2568G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln856Gln
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

9-123215964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215964
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215964
    reference: chr 9
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2467G>A
  hgvsp: ENSP00000354065.3:p.Ala823Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.745G>A
  hgvsp: ENSP00000400395.1:p.Ala249Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*390G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2563G>A
  hgvsp: ENSP00000343818.4:p.Ala855Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4764G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2563G>A
  hgvsp: ENSP00000353317.4:p.Ala855Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2563G>A
  hgvsp: ENSP00000352258.3:p.Ala855Thr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1387G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1871G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala855Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-123215966-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215966
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215966
    reference: chr 9
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2561A>C
  hgvsp: ENSP00000353317.4:p.Glu854Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.743A>C
  hgvsp: ENSP00000400395.1:p.Glu248Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2465A>C
  hgvsp: ENSP00000354065.3:p.Glu822Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2561A>C
  hgvsp: ENSP00000352258.3:p.Glu854Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*388A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1385A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2561A>C
  hgvsp: ENSP00000343818.4:p.Glu854Ala
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4762A>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1869A>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu854Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

9-123215971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215971
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215971
    reference: chr 9
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2556T>C
  hgvsp: ENST00000360190.4:c.2556T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1380T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2556T>C
  hgvsp: ENST00000359309.3:c.2556T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4757T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1864T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.738T>C
  hgvsp: ENST00000416449.1:c.738T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*383T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2556T>C
  hgvsp: ENST00000349780.4:c.2556T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2460T>C
  hgvsp: ENST00000360822.3:c.2460T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser852Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

9-123215977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215977
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215977
    reference: chr 9
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2550G>A
  hgvsp: ENST00000360190.4:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2550G>A
  hgvsp: ENST00000349780.4:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4751G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2454G>A
  hgvsp: ENST00000360822.3:c.2454G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*377G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2550G>A
  hgvsp: ENST00000359309.3:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1858G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.732G>A
  hgvsp: ENST00000416449.1:c.732G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1374G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys850Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

9-123215981-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215981
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215981
    reference: chr 9
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2546T>C
  hgvsp: ENSP00000343818.4:p.Leu849Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2546T>C
  hgvsp: ENSP00000353317.4:p.Leu849Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1370T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1854T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.728T>C
  hgvsp: ENSP00000400395.1:p.Leu243Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2546T>C
  hgvsp: ENSP00000352258.3:p.Leu849Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2450T>C
  hgvsp: ENSP00000354065.3:p.Leu817Pro
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4747T>C
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*373T>C
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7680
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu849Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

9-123215984-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215984
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215984
    reference: chr 9
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1367A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1851A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2543A>G
  hgvsp: ENSP00000353317.4:p.Glu848Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.725A>G
  hgvsp: ENSP00000400395.1:p.Glu242Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*370A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2447A>G
  hgvsp: ENSP00000354065.3:p.Glu816Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2543A>G
  hgvsp: ENSP00000352258.3:p.Glu848Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2543A>G
  hgvsp: ENSP00000343818.4:p.Glu848Gly
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4744A>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu848Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

9-123215995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215995
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215995
    reference: chr 9
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1356G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4733G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*359G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2532G>A
  hgvsp: ENST00000360190.4:c.2532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2436G>A
  hgvsp: ENST00000360822.3:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.714G>A
  hgvsp: ENST00000416449.1:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2532G>A
  hgvsp: ENST00000349780.4:c.2532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1840G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2532G>A
  hgvsp: ENST00000359309.3:c.2532G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7679
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Lys844Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

9-123215999-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123215999
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123215999
    reference: chr 9
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2528C>A
  hgvsp: ENSP00000343818.4:p.Ser843Tyr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4729C>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1352C>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1836C>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.710C>A
  hgvsp: ENSP00000400395.1:p.Ser237Tyr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2528C>A
  hgvsp: ENSP00000352258.3:p.Ser843Tyr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2528C>A
  hgvsp: ENSP00000353317.4:p.Ser843Tyr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2432C>A
  hgvsp: ENSP00000354065.3:p.Ser811Tyr
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*355C>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser843Tyr
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: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-123216004-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123216004
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123216004
    reference: chr 9
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.705A>G
  hgvsp: ENST00000416449.1:c.705A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2523A>G
  hgvsp: ENST00000359309.3:c.2523A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4724A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2523A>G
  hgvsp: ENST00000360190.4:c.2523A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*350A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1347A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2427A>G
  hgvsp: ENST00000360822.3:c.2427A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1831A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2523A>G
  hgvsp: ENST00000349780.4:c.2523A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser841Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

9-123216009-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123216009
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123216009
    reference: chr 9
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2422A>G
  hgvsp: ENSP00000354065.3:p.Asn808Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*345A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.700A>G
  hgvsp: ENSP00000400395.1:p.Asn234Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1342A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1826A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2518A>G
  hgvsp: ENSP00000353317.4:p.Asn840Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4719A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2518A>G
  hgvsp: ENSP00000343818.4:p.Asn840Asp
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2518A>G
  hgvsp: ENSP00000352258.3:p.Asn840Asp
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn840Asp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

9-123216018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123216018
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123216018
    reference: chr 9
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2509G>A
  hgvsp: ENSP00000352258.3:p.Val837Ile
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2413G>A
  hgvsp: ENSP00000354065.3:p.Val805Ile
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*336G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.691G>A
  hgvsp: ENSP00000400395.1:p.Val231Ile
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2509G>A
  hgvsp: ENSP00000343818.4:p.Val837Ile
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2509G>A
  hgvsp: ENSP00000353317.4:p.Val837Ile
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1333G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1817G>A
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4710G>A
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val837Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-123216027-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123216027
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123216027
    reference: chr 9
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2500G>T
  hgvsp: ENSP00000343818.4:p.Val834Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4701G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.682G>T
  hgvsp: ENSP00000400395.1:p.Val228Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2500G>T
  hgvsp: ENSP00000353317.4:p.Val834Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1808G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2500G>T
  hgvsp: ENSP00000352258.3:p.Val834Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2404G>T
  hgvsp: ENSP00000354065.3:p.Val802Leu
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1324G>T
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*327G>T
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val834Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

9-123216040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123216040
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123216040
    reference: chr 9
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000353317
  ensembl transcript: ENST00000360190
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360190.4:c.2487A>G
  hgvsp: ENST00000360190.4:c.2487A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000352258
  ensembl transcript: ENST00000359309
  gene symbol: CDK5RAP2
  hgvsc: ENST00000359309.3:c.2487A>G
  hgvsp: ENST00000359309.3:c.2487A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000483412
  gene symbol: CDK5RAP2
  hgvsc: ENST00000483412.1:n.1795A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000419265
  ensembl transcript: ENST00000473282
  gene symbol: CDK5RAP2
  hgvsc: ENST00000473282.2:c.*1311A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000418418
  ensembl transcript: ENST00000480112
  gene symbol: CDK5RAP2
  hgvsc: ENST00000480112.1:c.*314A>G
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000343818
  ensembl transcript: ENST00000349780
  gene symbol: CDK5RAP2
  hgvsc: ENST00000349780.4:c.2487A>G
  hgvsp: ENST00000349780.4:c.2487A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000354065
  ensembl transcript: ENST00000360822
  gene symbol: CDK5RAP2
  hgvsc: ENST00000360822.3:c.2391A>G
  hgvsp: ENST00000360822.3:c.2391A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000136861
  ensembl protein: ENSP00000400395
  ensembl transcript: ENST00000416449
  gene symbol: CDK5RAP2
  hgvsc: ENST00000416449.1:c.669A>G
  hgvsp: ENST00000416449.1:c.669A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18672
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000136861
  ensembl transcript: ENST00000479584
  gene symbol: CDK5RAP2
  hgvsc: ENST00000479584.1:n.73+4688A>G
  variant of: http://identifiers.org/hgnc/18672
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln829Gln
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 74
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4853
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5486
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2542
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
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: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496251874062968e-5
allele num: 66700
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.338e1

FS
type: SiteQuality
SIO_000300: 3.433e0

DP
type: SiteQuality
SIO_000300: 2.497241e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.163e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4852
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 7.25e1
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: 8638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.747e1

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

DP
type: SiteQuality
SIO_000300: 2.496461e6

FS
type: SiteQuality
SIO_000300: 4.781e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.867e0

QD
type: SiteQuality
SIO_000300: 1.705e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.75e-1

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4729
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24121
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4192
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e0

QD
type: SiteQuality
SIO_000300: 1.576e1

MQ
type: SiteQuality
SIO_000300: 6.102e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

DP
type: SiteQuality
SIO_000300: 2.484939e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 501
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24110
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4987
bin: 6.75e1
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: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817741153659719e-4
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.234e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.576e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.617e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

DP
type: SiteQuality
SIO_000300: 2.465373e6

GenotypeQuality
all individuals: 316
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4180
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4796
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 8.75e1
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: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

DP
type: SiteQuality
SIO_000300: 2.448886e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.611e0

FS
type: SiteQuality
SIO_000300: 9.569000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

QD
type: SiteQuality
SIO_000300: 1.419e1

VQSLOD
type: SiteQuality
SIO_000300: -2.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 580
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8299
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24119
bin: 9.75e1
variant carriers: 60

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4778
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4680
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.408408408408409e-4
allele num: 66600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.037667071688943e-4
allele num: 6584
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: 2
allele frequency: 1.946282600233554e-4
allele num: 10276
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.544e0

QD
type: SiteQuality
SIO_000300: 1.487e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 2.446434e6

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5278
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4165
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006162633398467e-5
allele num: 66530
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: 10262
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.568e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.427125e6

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.694e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 16711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 658
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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: 1488
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5041
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variant carriers: 0

GenotypeQuality
all individuals: 234
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variant carriers: 0

GenotypeQuality
all individuals: 2351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7558
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567545537197856e-5
allele num: 63794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.681e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.531e0

VQSLOD
type: SiteQuality
SIO_000300: -5.139e-1

DP
type: SiteQuality
SIO_000300: 1.645446e6

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
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variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19271
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variant carriers: 0

GenotypeQuality
all individuals: 2949
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.619886137958427e-5
allele num: 15106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.69e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

DP
type: SiteQuality
SIO_000300: 1.668969e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.8e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

GenotypeQuality
all individuals: 1580
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7589
bin: 9.75e1
variant carriers: 11

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.375e-5
allele num: 64000
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.981244221371021e-4
allele num: 15142
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.805917576611483e-5
allele num: 11356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.107e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 1.677749e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

QD
type: SiteQuality
SIO_000300: 1.563e1

GenotypeQuality
all individuals: 7202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
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GenotypeQuality
all individuals: 7769
bin: 9.75e1
variant carriers: 271

GenotypeQuality
all individuals: 420
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 20320
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 13
allele frequency: 1.14497093535318e-3
allele num: 11354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.071352046282408e-3
allele num: 9334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 249
allele frequency: 3.88722367928063e-3
allele num: 64056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.069367710251688e-4
allele num: 6516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15150
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.685102e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

QD
type: SiteQuality
SIO_000300: 1.604e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

GenotypeQuality
all individuals: 286
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2998
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
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variant carriers: 0

GenotypeQuality
all individuals: 7640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.750393838613688e-4
allele num: 11426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

FS
type: SiteQuality
SIO_000300: 4.383e0

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

DP
type: SiteQuality
SIO_000300: 1.732052e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3021
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7747
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4389
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variant carriers: 0

GenotypeQuality
all individuals: 5349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.297169811320755e-3
allele num: 8480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65330
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.744689e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 1.42e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65844
num of homozygotes: 0

East Asian
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allele count: 10
allele frequency: 1.171234481143125e-3
allele num: 8538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.01e-1

FS
type: SiteQuality
SIO_000300: 1.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

DP
type: SiteQuality
SIO_000300: 1.761817e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.465e0

QD
type: SiteQuality
SIO_000300: 1.262e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.771336e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

FS
type: SiteQuality
SIO_000300: 5.322e0

MQRankSum
type: SiteQuality
SIO_000300: -7.19e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.466e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 3
allele frequency: 1.819725827975252e-4
allele num: 16486
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.401e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.773481e6

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.532e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.82e-1

FS
type: SiteQuality
SIO_000300: 9.391e0

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

DP
type: SiteQuality
SIO_000300: 1.781198e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 24

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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: 24
allele frequency: 1.454016721192294e-3
allele num: 16506
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.334e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

DP
type: SiteQuality
SIO_000300: 1.784578e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.44e-1

GenotypeQuality
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bin: 8.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 906
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
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SIO_000300: 3.15e-1

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

Other
type: Population
allele count: 0
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Latino
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

African
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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Other
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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FS
type: SiteQuality
SIO_000300: 8.67e-1

QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
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VQSLOD
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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Other
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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African
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Latino
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FS
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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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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South Asian
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European (Non-Finnish)
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East Asian
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African
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Latino
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.78746e6

FS
type: SiteQuality
SIO_000300: 9.54e-1

ReadPosRankSum
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SIO_000300: 5.5e-1

InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele num: 10404
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

Other
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South Asian
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MQRankSum
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SIO_000300: -1.04e-1

BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.48e-1

ReadPosRankSum
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FS
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 1.787874e6

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66728
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.495e1

VQSLOD
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 1.38728323699422e-3
allele num: 8650
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.101e0

DP
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
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Other
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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East Asian
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Latino
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African
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 1.05708245243129e-3
allele num: 10406
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66740
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East Asian
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South Asian
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Other
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BaseQRankSum
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FS
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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Other
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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 (Non-Finnish)
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allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 9
allele frequency: 1.348516631705124e-4
allele num: 66740
num of homozygotes: 0

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

DP
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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QD
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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Other
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Latino
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East Asian
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European (Finnish)
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QD
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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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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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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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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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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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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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.291e0

VQSLOD
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MQRankSum
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BaseQRankSum
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SIO_000300: -6.148e0

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -2.37e-1

MQ
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DP
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SIO_000300: 1.794208e6

QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 3.91e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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QD
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SIO_000300: 1.46e1

MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
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

South Asian
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allele count: 33
allele frequency: 1.998546511627907e-3
allele num: 16512
num of homozygotes: 0

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

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

East Asian
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Other
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ReadPosRankSum
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SIO_000300: 6.95e-1

MQRankSum
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FS
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DP
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InbreedingCoeff
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SIO_000300: -3.0e-4

VQSLOD
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ClippingRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 24
allele frequency: 2.072896873380549e-3
allele num: 11578
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

South Asian
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allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

African
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allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 139
allele frequency: 2.082709020077914e-3
allele num: 66740
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.054e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.819999e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.26e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

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

Other
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VQSLOD
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SIO_000300: 9.389999999999999e-1

FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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Other
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African
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East Asian
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European (Non-Finnish)
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allele num: 66740
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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European (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 (Non-Finnish)
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allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

Other
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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SIO_000300: 1.433e1

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

Other
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European (Non-Finnish)
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African
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.724e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

DP
type: SiteQuality
SIO_000300: 1.796531e6

QD
type: SiteQuality
SIO_000300: 1.308e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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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: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

African
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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

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.868e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
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SIO_000300: 1.434e1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.796369e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3069
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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

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: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

African
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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: 8648
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 1.796648e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.581e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.265e1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.316e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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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: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
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: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.101e1

DP
type: SiteQuality
SIO_000300: 1.796322e6

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

FS
type: SiteQuality
SIO_000300: 1.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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 count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
type: Population
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: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.79627e6

FS
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495459585818323e-5
allele num: 66734
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.918e1

InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.796421e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.04e-1

ReadPosRankSum
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SIO_000300: 1.23e0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.501e0

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