2-55539530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539530
    reference: chr 2
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4079+40C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1594G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.4076+40C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.523+40C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4079+40C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.1020+40C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1214+40C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1604+40C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.4076+40C>T
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43638
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

2-55539532-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539532
    reference: chr 2
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.523+38C>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.4076+38C>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.4076+38C>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1592G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1604+38C>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4079+38C>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4079+38C>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.1020+38C>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1214+38C>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

2-55539540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539540
    reference: chr 2
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4079+30A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4079+30A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.4076+30A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.4076+30A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.1020+30A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.523+30A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1584T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1214+30A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1604+30A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

2-55539547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539547
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1604+23C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.523+23C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.4076+23C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1577G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4079+23C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4079+23C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.4076+23C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.1020+23C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1214+23C>T
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-55539578-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539578
    reference: chr 2
allele count: 306
allele frequency: 2.521797893557054e-3
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.4068A>G
  hgvsp: ENST00000413716.2:c.4068A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1546T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1206A>G
  hgvsp: ENST00000412148.1:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1596A>G
  hgvsp: ENST00000426576.1:c.1596A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4071A>G
  hgvsp: ENST00000263630.8:c.4071A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.515A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.4068A>G
  hgvsp: ENST00000336838.6:c.4068A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.1012A>G
  hgvsp: ENST00000456975.1:c.1012A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4071A>G
  hgvsp: ENST00000436346.1:c.4071A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 9.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 32196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg1356Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-55539587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539587
    reference: chr 2
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.4059T>C
  hgvsp: ENST00000413716.2:c.4059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.506T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1197T>C
  hgvsp: ENST00000412148.1:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4062T>C
  hgvsp: ENST00000436346.1:c.4062T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.4059T>C
  hgvsp: ENST00000336838.6:c.4059T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.1003T>C
  hgvsp: ENST00000456975.1:c.1003T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1537A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1587T>C
  hgvsp: ENST00000426576.1:c.1587T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4062T>C
  hgvsp: ENST00000263630.8:c.4062T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1353Val
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

2-55539625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539625
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539625
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.468T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4024T>C
  hgvsp: ENST00000436346.1:c.4024T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.4021T>C
  hgvsp: ENST00000336838.6:c.4021T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.4021T>C
  hgvsp: ENST00000413716.2:c.4021T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4024T>C
  hgvsp: ENST00000263630.8:c.4024T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1159T>C
  hgvsp: ENST00000412148.1:c.1159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.965T>C
  hgvsp: ENST00000456975.1:c.965T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1499A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1549T>C
  hgvsp: ENST00000426576.1:c.1549T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu1341Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-55539648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539648
    reference: chr 2
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.942T>C
  hgvsp: ENSP00000415267.1:p.Leu315Ser
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1136T>C
  hgvsp: ENSP00000390012.1:p.Leu379Ser
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4001T>C
  hgvsp: ENSP00000263630.8:p.Leu1334Ser
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4001T>C
  hgvsp: ENSP00000410608.1:p.Leu1334Ser
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3998T>C
  hgvsp: ENSP00000404431.2:p.Leu1333Ser
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.445T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1526T>C
  hgvsp: ENSP00000405080.1:p.Leu509Ser
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1476A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3998T>C
  hgvsp: ENSP00000338728.6:p.Leu1333Ser
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu1333Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-55539649-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539649
    reference: chr 2
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1525T>C
  hgvsp: ENST00000426576.1:c.1525T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3997T>C
  hgvsp: ENST00000336838.6:c.3997T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.444T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.941T>C
  hgvsp: ENST00000456975.1:c.941T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1135T>C
  hgvsp: ENST00000412148.1:c.1135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3997T>C
  hgvsp: ENST00000413716.2:c.3997T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.4000T>C
  hgvsp: ENST00000263630.8:c.4000T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.4000T>C
  hgvsp: ENST00000436346.1:c.4000T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1475A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1333Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

2-55539671-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539671
    reference: chr 2
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1453A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.919T>C
  hgvsp: ENST00000456975.1:c.919T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3978T>C
  hgvsp: ENST00000436346.1:c.3978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3978T>C
  hgvsp: ENST00000263630.8:c.3978T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1503T>C
  hgvsp: ENST00000426576.1:c.1503T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3975T>C
  hgvsp: ENST00000413716.2:c.3975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3975T>C
  hgvsp: ENST00000336838.6:c.3975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1113T>C
  hgvsp: ENST00000412148.1:c.1113T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.422T>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His1325His
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-55539683-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539683
    reference: chr 2
allele count: 1
allele frequency: 8.347384764353328e-6
allele num: 119798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.410A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.907A>G
  hgvsp: ENST00000456975.1:c.907A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3966A>G
  hgvsp: ENST00000263630.8:c.3966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1491A>G
  hgvsp: ENST00000426576.1:c.1491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1441T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3963A>G
  hgvsp: ENST00000336838.6:c.3963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3963A>G
  hgvsp: ENST00000413716.2:c.3963A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3966A>G
  hgvsp: ENST00000436346.1:c.3966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1101A>G
  hgvsp: ENST00000412148.1:c.1101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1321Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-55539704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539704
    reference: chr 2
allele count: 3
allele frequency: 2.568537132485145e-5
allele num: 116798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.886A>G
  hgvsp: ENST00000456975.1:c.886A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1420T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3942A>G
  hgvsp: ENST00000413716.2:c.3942A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1470A>G
  hgvsp: ENST00000426576.1:c.1470A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3945A>G
  hgvsp: ENST00000436346.1:c.3945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3942A>G
  hgvsp: ENST00000336838.6:c.3942A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1080A>G
  hgvsp: ENST00000412148.1:c.1080A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3945A>G
  hgvsp: ENST00000263630.8:c.3945A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.389A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln1314Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

2-55539723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539723
    reference: chr 2
allele count: 3
allele frequency: 2.791165032284476e-5
allele num: 107482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-8T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-8T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-8T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-8T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-8T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1401A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-8T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-8T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-8T>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21068
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.75e1
  variant carriers: 0
hgvs: c.3931-8T>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-55539734-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539734
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539734
    reference: chr 2
allele count: 1
allele frequency: 9.819902979358563e-6
allele num: 101834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-19A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-19A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-19A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-19A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-19A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-19A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1390T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-19A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-19A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-55539738-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539738
    reference: chr 2
allele count: 3
allele frequency: 3.004205888243541e-5
allele num: 99860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-23A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-23A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-23A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-23A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-23A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-23A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-23A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-23A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1386T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20171
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-55539739-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539739
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539739
    reference: chr 2
allele count: 11
allele frequency: 1.104062951662117e-4
allele num: 99632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-24T>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-24T>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1385A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-24T>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-24T>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-24T>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-24T>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-24T>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-24T>A
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20519
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11818
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16519
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-55539746-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539746
    reference: chr 2
allele count: 2
allele frequency: 2.096831687320459e-5
allele num: 95382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-31G>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-31G>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-31G>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-31G>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-31G>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-31G>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1378C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-31G>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-31G>T
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

2-55539746-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539746
    reference: chr 2
allele count: 2
allele frequency: 2.096831687320459e-5
allele num: 95382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1378C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-31G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-31G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-31G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-31G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-31G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-31G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-31G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-31G>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-55539747-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539747
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539747
    reference: chr 2
allele count: 1
allele frequency: 1.045784442910627e-5
allele num: 95622
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-32T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-32T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1377A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-32T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-32T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-32T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-32T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-32T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-32T>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22207
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-55539749-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539749
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 92526
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1375C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-34G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-34G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-34G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-34G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-34G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-34G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-34G>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-34G>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10670
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-55539755-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539755
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539755
    reference: chr 2
allele count: 3
allele frequency: 3.357808022922636e-5
allele num: 89344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-40G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1369C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-40G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-40G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-40G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-40G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-40G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-40G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-40G>A
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2079
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4558
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/2-55539761-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539761
    reference: chr 2
allele count: 1
allele frequency: 1.212473931810466e-5
allele num: 82476
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1363A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-46T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-46T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-46T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-46T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-46T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-46T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-46T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-46T>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-55539762-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55539762
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55539762
    reference: chr 2
allele count: 1
allele frequency: 1.214034235765449e-5
allele num: 82370
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000366287
  gene symbol: AC012358.8
  hgvsc: ENST00000366287.4:n.437-1362C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.378-47G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3931-47G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3934-47G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3934-47G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.875-47G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1459-47G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3931-47G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1069-47G>A
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17635
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4768
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-55543015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543015
    reference: chr 2
allele count: 1
allele frequency: 9.003817618670317e-6
allele num: 111064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.874+49C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1628G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1458+49C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1628G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1628G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1068+49C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3933+49C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3933+49C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.124+49C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1628G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.377+49C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3930+49C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1628G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3930+49C>T
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

2-55543020-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543020
    reference: chr 2
allele count: 1
allele frequency: 9.003817618670317e-6
allele num: 111064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3933+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1633G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3930+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1633G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.124+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3933+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1458+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1633G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1068+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1633G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.377+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3930+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.874+44C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1633G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-55543025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543025
    reference: chr 2
allele count: 1
allele frequency: 9.000900090009001e-6
allele num: 111100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1638C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.377+39G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1638C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1638C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.874+39G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1638C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1638C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1068+39G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3930+39G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3933+39G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.124+39G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1458+39G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3933+39G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3930+39G>A
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-55543038-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543038
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543038
    reference: chr 2
allele count: 1
allele frequency: 8.979401253524415e-6
allele num: 111366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1651A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1651A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1651A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1068+26T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1651A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3930+26T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.124+26T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3933+26T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.377+26T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.874+26T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1458+26T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3930+26T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1651A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3933+26T>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

2-55543040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543040
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543040
    reference: chr 2
allele count: 3
allele frequency: 2.69323996768112e-5
allele num: 111390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.874+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.377+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1653A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1458+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1653A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1068+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.124+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3930+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1653A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3933+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1653A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3930+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3933+24T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1653A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-55543046-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543046
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543046
    reference: chr 2
allele count: 1
allele frequency: 8.956881572111853e-6
allele num: 111646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3930+18A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3933+18A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1659T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1068+18A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1659T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1659T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3930+18A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1659T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.874+18A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.377+18A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.124+18A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1659T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1458+18A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3933+18A>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-55543085-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543085
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543085
    reference: chr 2
allele count: 1
allele frequency: 8.686738824510502e-6
allele num: 115118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1437C>T
  hgvsp: ENST00000426576.1:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.356C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1698G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3912C>T
  hgvsp: ENST00000436346.1:c.3912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1698G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3909C>T
  hgvsp: ENST00000336838.6:c.3909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.853C>T
  hgvsp: ENST00000456975.1:c.853C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1698G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1698G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3912C>T
  hgvsp: ENST00000263630.8:c.3912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1047C>T
  hgvsp: ENST00000412148.1:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3909C>T
  hgvsp: ENST00000413716.2:c.3909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1698G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.103C>T
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1303Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

2-55543086-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543086
    reference: chr 2
allele count: 7
allele frequency: 6.074806907923284e-5
allele num: 115230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3911C>A
  hgvsp: ENSP00000263630.8:p.Thr1304Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.102C>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3908C>A
  hgvsp: ENSP00000404431.2:p.Thr1303Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.852C>A
  hgvsp: ENSP00000415267.1:p.Thr285Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1436C>A
  hgvsp: ENSP00000405080.1:p.Thr479Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1699G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1699G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3911C>A
  hgvsp: ENSP00000410608.1:p.Thr1304Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3908C>A
  hgvsp: ENSP00000338728.6:p.Thr1303Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1046C>A
  hgvsp: ENSP00000390012.1:p.Thr349Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1699G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1699G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.355C>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1699G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1303Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-55543087-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543087
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543087
    reference: chr 2
allele count: 76
allele frequency: 6.588643259644561e-4
allele num: 115350
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3907A>G
  hgvsp: ENSP00000338728.6:p.Thr1303Ala
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3910A>G
  hgvsp: ENSP00000263630.8:p.Thr1304Ala
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3907A>G
  hgvsp: ENSP00000404431.2:p.Thr1303Ala
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1700T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1700T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1435A>G
  hgvsp: ENSP00000405080.1:p.Thr479Ala
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1045A>G
  hgvsp: ENSP00000390012.1:p.Thr349Ala
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.101A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3910A>G
  hgvsp: ENSP00000410608.1:p.Thr1304Ala
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.354A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1700T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1700T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.851A>G
  hgvsp: ENSP00000415267.1:p.Thr285Ala
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1700T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30209
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1303Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-55543102-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543102
    reference: chr 2
allele count: 22
allele frequency: 1.867477038520958e-4
allele num: 117806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3895T>C
  hgvsp: ENST00000263630.8:c.3895T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.836T>C
  hgvsp: ENST00000456975.1:c.836T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.86T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.339T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1715A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1420T>C
  hgvsp: ENST00000426576.1:c.1420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1030T>C
  hgvsp: ENST00000412148.1:c.1030T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3895T>C
  hgvsp: ENST00000436346.1:c.3895T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1715A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3892T>C
  hgvsp: ENST00000413716.2:c.3892T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1715A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1715A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3892T>C
  hgvsp: ENST00000336838.6:c.3892T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1715A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1298Leu
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-55543103-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543103
    reference: chr 2
allele count: 1
allele frequency: 8.479606546256254e-6
allele num: 117930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3891A>G
  hgvsp: ENST00000413716.2:c.3891A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3894A>G
  hgvsp: ENST00000436346.1:c.3894A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1716T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3891A>G
  hgvsp: ENST00000336838.6:c.3891A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1716T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1029A>G
  hgvsp: ENST00000412148.1:c.1029A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1716T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1716T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.85A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.835A>G
  hgvsp: ENST00000456975.1:c.835A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3894A>G
  hgvsp: ENST00000263630.8:c.3894A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1419A>G
  hgvsp: ENST00000426576.1:c.1419A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1716T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.338A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1297Gln
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: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

2-55543124-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543124
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543124
    reference: chr 2
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1737T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3873A>T
  hgvsp: ENSP00000263630.8:p.Lys1291Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1737T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1737T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3870A>T
  hgvsp: ENSP00000404431.2:p.Lys1290Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3870A>T
  hgvsp: ENSP00000338728.6:p.Lys1290Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3873A>T
  hgvsp: ENSP00000410608.1:p.Lys1291Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.1008A>T
  hgvsp: ENSP00000390012.1:p.Lys336Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.814A>T
  hgvsp: ENSP00000415267.1:p.Lys272Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1737T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1737T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.64A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.317A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1398A>T
  hgvsp: ENSP00000405080.1:p.Lys466Asn
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1290Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

2-55543134-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543134
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543134
    reference: chr 2
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3860A>G
  hgvsp: ENSP00000338728.6:p.Glu1287Gly
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1747T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1747T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3863A>G
  hgvsp: ENSP00000410608.1:p.Glu1288Gly
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3863A>G
  hgvsp: ENSP00000263630.8:p.Glu1288Gly
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1388A>G
  hgvsp: ENSP00000405080.1:p.Glu463Gly
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.54A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.804A>G
  hgvsp: ENSP00000415267.1:p.Glu269Gly
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3860A>G
  hgvsp: ENSP00000404431.2:p.Glu1287Gly
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.998A>G
  hgvsp: ENSP00000390012.1:p.Glu333Gly
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.307A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1747T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1747T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1747T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1287Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-55543138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543138
    reference: chr 2
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.303G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.994G>A
  hgvsp: ENSP00000390012.1:p.Ala332Thr
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.800G>A
  hgvsp: ENSP00000415267.1:p.Ala268Thr
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3856G>A
  hgvsp: ENSP00000338728.6:p.Ala1286Thr
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3859G>A
  hgvsp: ENSP00000410608.1:p.Ala1287Thr
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.50G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1384G>A
  hgvsp: ENSP00000405080.1:p.Ala462Thr
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3859G>A
  hgvsp: ENSP00000263630.8:p.Ala1287Thr
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3856G>A
  hgvsp: ENSP00000404431.2:p.Ala1286Thr
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1751C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1751C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1751C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1751C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1751C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1286Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-55543142-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543142
    reference: chr 2
allele count: 3
allele frequency: 2.479830710223515e-5
allele num: 120976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.46A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3855A>G
  hgvsp: ENST00000263630.8:c.3855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3852A>G
  hgvsp: ENST00000336838.6:c.3852A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3855A>G
  hgvsp: ENST00000436346.1:c.3855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1755T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.990A>G
  hgvsp: ENST00000412148.1:c.990A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3852A>G
  hgvsp: ENST00000413716.2:c.3852A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.796A>G
  hgvsp: ENST00000456975.1:c.796A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1380A>G
  hgvsp: ENST00000426576.1:c.1380A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1755T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1755T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1755T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1755T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.299A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1284Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-55543161-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543161
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543161
    reference: chr 2
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3836A>T
  hgvsp: ENSP00000410608.1:p.Lys1279Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1774T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3833A>T
  hgvsp: ENSP00000338728.6:p.Lys1278Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1361A>T
  hgvsp: ENSP00000405080.1:p.Lys454Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3836A>T
  hgvsp: ENSP00000263630.8:p.Lys1279Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.280A>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1774T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1774T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1774T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3833A>T
  hgvsp: ENSP00000404431.2:p.Lys1278Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1774T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.777A>T
  hgvsp: ENSP00000415267.1:p.Lys260Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.971A>T
  hgvsp: ENSP00000390012.1:p.Lys324Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.27A>T
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1278Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-55543162-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543162
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543162
    reference: chr 2
allele count: 2
allele frequency: 1.655245472903632e-5
allele num: 120828
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.776A>C
  hgvsp: ENSP00000415267.1:p.Lys260Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1775T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1775T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3832A>C
  hgvsp: ENSP00000404431.2:p.Lys1278Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.970A>C
  hgvsp: ENSP00000390012.1:p.Lys324Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1360A>C
  hgvsp: ENSP00000405080.1:p.Lys454Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3835A>C
  hgvsp: ENSP00000410608.1:p.Lys1279Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3835A>C
  hgvsp: ENSP00000263630.8:p.Lys1279Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.26A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1775T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1775T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.279A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1775T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3832A>C
  hgvsp: ENSP00000338728.6:p.Lys1278Gln
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1278Gln
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

2-55543163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543163
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543163
    reference: chr 2
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.775C>T
  hgvsp: ENST00000456975.1:c.775C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.969C>T
  hgvsp: ENST00000412148.1:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1776G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1776G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1776G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3831C>T
  hgvsp: ENST00000413716.2:c.3831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.278C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1359C>T
  hgvsp: ENST00000426576.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.25C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3834C>T
  hgvsp: ENST00000263630.8:c.3834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1776G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3834C>T
  hgvsp: ENST00000436346.1:c.3834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3831C>T
  hgvsp: ENST00000336838.6:c.3831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1776G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1277Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-55543182-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543182
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543182
    reference: chr 2
allele count: 2
allele frequency: 1.676389727083752e-5
allele num: 119304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.756A>G
  hgvsp: ENSP00000415267.1:p.Lys253Arg
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.950A>G
  hgvsp: ENSP00000390012.1:p.Lys317Arg
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.259A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1795T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000476903
  gene symbol: CCDC88A
  hgvsc: ENST00000476903.1:n.6A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3812A>G
  hgvsp: ENSP00000338728.6:p.Lys1271Arg
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1795T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3815A>G
  hgvsp: ENSP00000263630.8:p.Lys1272Arg
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1795T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3815A>G
  hgvsp: ENSP00000410608.1:p.Lys1272Arg
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3812A>G
  hgvsp: ENSP00000404431.2:p.Lys1271Arg
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1340A>G
  hgvsp: ENSP00000405080.1:p.Lys447Arg
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1795T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1795T>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys1271Arg
num of homozygotes: 1
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-55543210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543210
    reference: chr 2
allele count: 1
allele frequency: 9.044371687498869e-6
allele num: 110566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3784G>A
  hgvsp: ENSP00000404431.2:p.Val1262Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.922G>A
  hgvsp: ENSP00000390012.1:p.Val308Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3784G>A
  hgvsp: ENSP00000338728.6:p.Val1262Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.231G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1823C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3787G>A
  hgvsp: ENSP00000263630.8:p.Val1263Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.728G>A
  hgvsp: ENSP00000415267.1:p.Val244Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1823C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3787G>A
  hgvsp: ENSP00000410608.1:p.Val1263Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1823C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1312G>A
  hgvsp: ENSP00000405080.1:p.Val438Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1823C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1823C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1262Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/2-55543214-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543214
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543214
    reference: chr 2
allele count: 1
allele frequency: 9.167415338919345e-6
allele num: 109082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3780T>G
  hgvsp: ENST00000413716.2:c.3780T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.918T>G
  hgvsp: ENST00000412148.1:c.918T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.227T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3783T>G
  hgvsp: ENST00000436346.1:c.3783T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.724T>G
  hgvsp: ENST00000456975.1:c.724T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1827A>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3780T>G
  hgvsp: ENST00000336838.6:c.3780T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1827A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1827A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1308T>G
  hgvsp: ENST00000426576.1:c.1308T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1827A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1827A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3783T>G
  hgvsp: ENST00000263630.8:c.3783T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1260Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-55543214-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543214
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543214
    reference: chr 2
allele count: 1
allele frequency: 9.167415338919345e-6
allele num: 109082
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3780T>A
  hgvsp: ENST00000336838.6:c.3780T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.724T>A
  hgvsp: ENST00000456975.1:c.724T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1827A>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1308T>A
  hgvsp: ENST00000426576.1:c.1308T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3783T>A
  hgvsp: ENST00000263630.8:c.3783T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.918T>A
  hgvsp: ENST00000412148.1:c.918T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3783T>A
  hgvsp: ENST00000436346.1:c.3783T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3780T>A
  hgvsp: ENST00000413716.2:c.3780T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1827A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1827A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.227T>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1827A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1827A>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23847
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1260Thr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-55543215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543215
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543215
    reference: chr 2
allele count: 1
allele frequency: 9.170778232240788e-6
allele num: 109042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3782C>T
  hgvsp: ENSP00000263630.8:p.Thr1261Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1828G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1828G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3782C>T
  hgvsp: ENSP00000410608.1:p.Thr1261Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1828G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1307C>T
  hgvsp: ENSP00000405080.1:p.Thr436Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.723C>T
  hgvsp: ENSP00000415267.1:p.Thr242Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.226C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.917C>T
  hgvsp: ENSP00000390012.1:p.Thr306Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3779C>T
  hgvsp: ENSP00000338728.6:p.Thr1260Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3779C>T
  hgvsp: ENSP00000404431.2:p.Thr1260Ile
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1828G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1828G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1260Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-55543215-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543215
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543215
    reference: chr 2
allele count: 1
allele frequency: 9.170778232240788e-6
allele num: 109042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1828G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1828G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1828G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1307C>A
  hgvsp: ENSP00000405080.1:p.Thr436Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.226C>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3782C>A
  hgvsp: ENSP00000410608.1:p.Thr1261Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.723C>A
  hgvsp: ENSP00000415267.1:p.Thr242Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3779C>A
  hgvsp: ENSP00000338728.6:p.Thr1260Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.917C>A
  hgvsp: ENSP00000390012.1:p.Thr306Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3782C>A
  hgvsp: ENSP00000263630.8:p.Thr1261Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3779C>A
  hgvsp: ENSP00000404431.2:p.Thr1260Asn
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1828G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1828G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1260Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-55543235-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543235
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543235
    reference: chr 2
allele count: 1
allele frequency: 1.036054703688355e-5
allele num: 96520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.206T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3762T>C
  hgvsp: ENST00000263630.8:c.3762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1848A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3759T>C
  hgvsp: ENST00000413716.2:c.3759T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1848A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1848A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.703T>C
  hgvsp: ENST00000456975.1:c.703T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1287T>C
  hgvsp: ENST00000426576.1:c.1287T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1848A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.897T>C
  hgvsp: ENST00000412148.1:c.897T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3759T>C
  hgvsp: ENST00000336838.6:c.3759T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3762T>C
  hgvsp: ENST00000436346.1:c.3762T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1848A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr1253Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-55543238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543238
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543238
    reference: chr 2
allele count: 1
allele frequency: 1.055832418278571e-5
allele num: 94712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.894C>T
  hgvsp: ENST00000412148.1:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1851G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3756C>T
  hgvsp: ENST00000413716.2:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.203C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3759C>T
  hgvsp: ENST00000263630.8:c.3759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1851G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.700C>T
  hgvsp: ENST00000456975.1:c.700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3756C>T
  hgvsp: ENST00000336838.6:c.3756C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1851G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1284C>T
  hgvsp: ENST00000426576.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3759C>T
  hgvsp: ENST00000436346.1:c.3759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1851G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1851G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14017
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1252Thr
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-55543238-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543238
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543238
    reference: chr 2
allele count: 1
allele frequency: 1.055832418278571e-5
allele num: 94712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1851G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3756C>G
  hgvsp: ENST00000413716.2:c.3756C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1851G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1851G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1851G>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.894C>G
  hgvsp: ENST00000412148.1:c.894C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3759C>G
  hgvsp: ENST00000263630.8:c.3759C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1284C>G
  hgvsp: ENST00000426576.1:c.1284C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.203C>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3759C>G
  hgvsp: ENST00000436346.1:c.3759C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.700C>G
  hgvsp: ENST00000456975.1:c.700C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3756C>G
  hgvsp: ENST00000336838.6:c.3756C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1851G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7772
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14017
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1252Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-55543241-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543241
    reference: chr 2
allele count: 1
allele frequency: 1.083470572939239e-5
allele num: 92296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1281T>G
  hgvsp: ENSP00000405080.1:p.His427Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3756T>G
  hgvsp: ENSP00000263630.8:p.His1252Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.891T>G
  hgvsp: ENSP00000390012.1:p.His297Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3753T>G
  hgvsp: ENSP00000338728.6:p.His1251Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.697T>G
  hgvsp: ENSP00000415267.1:p.His233Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3753T>G
  hgvsp: ENSP00000404431.2:p.His1251Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1854A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1854A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1854A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3756T>G
  hgvsp: ENSP00000410608.1:p.His1252Gln
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.200T>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1854A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1854A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1251Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-55543250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543250
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543250
    reference: chr 2
allele count: 6
allele frequency: 7.300868803387604e-5
allele num: 82182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747G>A
  hgvsp: ENST00000436346.1:c.3747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1863C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744G>A
  hgvsp: ENST00000336838.6:c.3744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272G>A
  hgvsp: ENST00000426576.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1863C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191G>A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882G>A
  hgvsp: ENST00000412148.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688G>A
  hgvsp: ENST00000456975.1:c.688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747G>A
  hgvsp: ENST00000263630.8:c.3747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1863C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744G>A
  hgvsp: ENST00000413716.2:c.3744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1863C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1863C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21769
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3240
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.3744G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-55543253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543253
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543253
    reference: chr 2
allele count: 1
allele frequency: 1.319296023641785e-5
allele num: 75798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-3T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1866A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1866A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-3T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-3T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1866A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-3T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1866A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1866A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-3T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-3T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-3T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-3T>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3744-3T>C
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-55543255-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543255
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543255
    reference: chr 2
allele count: 1
allele frequency: 1.318565400843882e-5
allele num: 75840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-5T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1868A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-5T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-5T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1868A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-5T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-5T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1868A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1868A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-5T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-5T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-5T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1868A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22736
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.3744-5T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-55543259-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543259
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543259
    reference: chr 2
allele count: 1
allele frequency: 1.717681816620289e-5
allele num: 58218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1872A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-9T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1872A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-9T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1872A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-9T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-9T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-9T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1872A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-9T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-9T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1872A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-9T>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20733
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-55543265-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543265
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543263
    reference: chr 2
allele count: 2
allele frequency: 3.558845510516389e-5
allele num: 56198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-17_882-16delAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1880_90+1881delTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1880_91+1881delTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1880_170+1881delTA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-17_191-16delAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1880_90+1881delTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-17_3747-16delAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1880_90+1881delTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-17_3744-16delAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-17_688-16delAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-17_1272-16delAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-17_3747-16delAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-17_3744-16delAT
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19677
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: CAT
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-55543272-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543272
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543272
    reference: chr 2
allele count: 2
allele frequency: 4.809542131589073e-5
allele num: 41584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-22T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-22T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1885A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-22T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1885A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-22T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-22T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-22T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1885A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1885A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-22T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1885A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-22T>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15150
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-55543273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543273
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543273
    reference: chr 2
allele count: 1
allele frequency: 2.405465216972962e-5
allele num: 41572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1886T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-23A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-23A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1886T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-23A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1886T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-23A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1886T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-23A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-23A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1886T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-23A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-23A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-55543275-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543275
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 38862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1888T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1888T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-25A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1888T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-25A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-25A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-25A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-25A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1888T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1888T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-25A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-25A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-25A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19434
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-55543279-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543279
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543279
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 32640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1892T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-29A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-29A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1892T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-29A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1892T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-29A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1892T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-29A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-29A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-29A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1892T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-29A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19388
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

2-55543280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543280
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543280
    reference: chr 2
allele count: 1
allele frequency: 3.054367745876604e-5
allele num: 32740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-30T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-30T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1893A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1893A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-30T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-30T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1893A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-30T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1893A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-30T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-30T>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1893A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-30T>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-55543288-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543288
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543288
    reference: chr 2
allele count: 1
allele frequency: 4.053177691309987e-5
allele num: 24672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-38A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-38A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-38A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-38A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1901T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1901T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1901T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-38A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-38A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1901T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1901T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-38A>C
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-38A>C
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-55543292-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55543292
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55543292
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 23058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.688-42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+1905T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+1905T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3747-42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3744-42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+1905T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+1905T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.191-42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.882-42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+1905T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3744-42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3747-42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1272-42A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21094
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-55544300-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55544300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55544300
    reference: chr 2
allele count: 1
allele frequency: 9.201324990798675e-5
allele num: 10868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3743+42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3746+42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+2913T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.190+400A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+2913T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+2913T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.881+42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1271+42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3743+42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+2913T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+2913T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.687+42A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3746+42A>G
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-55544301-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55544301
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55544301
    reference: chr 2
allele count: 2
allele frequency: 1.832844574780059e-4
allele num: 10912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+2914T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3743+41A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.190+399A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+2914T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.881+41A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1271+41A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3746+41A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3746+41A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+2914T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+2914T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3743+41A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.687+41A>G
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+2914T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

2-55544317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55544317
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55544317
    reference: chr 2
allele count: 15
allele frequency: 1.256071009881092e-3
allele num: 11942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1271+25C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.687+25C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.881+25C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3743+25C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3743+25C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
  hgvsc: ENST00000599475.1:n.170+2930G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
  hgvsc: ENST00000594078.1:n.90+2930G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
  hgvsc: ENST00000599352.1:n.90+2930G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
  hgvsc: ENST00000600219.1:n.90+2930G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
  hgvsc: ENST00000608103.1:n.91+2930G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3746+25C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3746+25C>T
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  hgvsc: ENST00000474059.1:n.190+383C>T
  variant of: http://identifiers.org/hgnc/25523
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-55544319-TATATATA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55544319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55544312
    reference: chr 2
allele count: 1
allele frequency: 8.160600620205648e-5
allele num: 12254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000390012
  ensembl transcript: ENST00000412148
  gene symbol: CCDC88A
  hgvsc: ENST00000412148.1:c.881+16_881+22delTATATAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000338728
  ensembl transcript: ENST00000336838
  gene symbol: CCDC88A
  hgvsc: ENST00000336838.6:c.3743+16_3743+22delTATATAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl transcript: ENST00000474059
  gene symbol: CCDC88A
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000600219
  gene symbol: AC012358.8
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599475
  gene symbol: AC012358.8
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000608103
  gene symbol: AC012358.8
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000415267
  ensembl transcript: ENST00000456975
  gene symbol: CCDC88A
  hgvsc: ENST00000456975.1:c.687+16_687+22delTATATAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000410608
  ensembl transcript: ENST00000436346
  gene symbol: CCDC88A
  hgvsc: ENST00000436346.1:c.3746+16_3746+22delTATATAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000263630
  ensembl transcript: ENST00000263630
  gene symbol: CCDC88A
  hgvsc: ENST00000263630.8:c.3746+16_3746+22delTATATAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000599352
  gene symbol: AC012358.8
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000404431
  ensembl transcript: ENST00000413716
  gene symbol: CCDC88A
  hgvsc: ENST00000413716.2:c.3743+16_3743+22delTATATAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115355
  ensembl protein: ENSP00000405080
  ensembl transcript: ENST00000426576
  gene symbol: CCDC88A
  hgvsc: ENST00000426576.1:c.1271+16_1271+22delTATATAT
  variant of: http://identifiers.org/hgnc/25523
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000240401
  ensembl transcript: ENST00000594078
  gene symbol: AC012358.8
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: TATATATA

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8064
bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 1.834511e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.085e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.512e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.289e1

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

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8078
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 834
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3433
bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.789e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

DP
type: SiteQuality
SIO_000300: 1.835026e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 420
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.315e1

VQSLOD
type: SiteQuality
SIO_000300: -7.783e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.879e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.95e0

MQRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.837154e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8112
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3433
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.838623e6

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.565e0

FS
type: SiteQuality
SIO_000300: 8.369999999999999e0

QD
type: SiteQuality
SIO_000300: 1.318e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

VQSLOD
type: SiteQuality
SIO_000300: -8.313e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
all individuals: 3472
bin: 9.75e1
variant carriers: 306

GenotypeQuality
all individuals: 817
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1612
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8124
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 405
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44386
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 12
allele frequency: 1.154068090017311e-3
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 265
allele frequency: 3.973251769221543e-3
allele num: 66696
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 15
allele frequency: 9.087604507451836e-4
allele num: 16506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.855786e6

QD
type: SiteQuality
SIO_000300: 1.398e1

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

GenotypeQuality
all individuals: 1614
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44609
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3195
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.830547e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.919e0

QD
type: SiteQuality
SIO_000300: 1.019e1

FS
type: SiteQuality
SIO_000300: 4.748e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.183e0

MQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.830343e6

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

DP
type: SiteQuality
SIO_000300: 1.828095e6

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 3.384e0

VQSLOD
type: SiteQuality
SIO_000300: -3.625e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 1.861e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.539e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 1.828098e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.816775e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.355e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-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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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522162688748173e-5
allele num: 65696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.797897e6

FS
type: SiteQuality
SIO_000300: 8.664999999999999e0

QD
type: SiteQuality
SIO_000300: 1.632e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.091e0

VQSLOD
type: SiteQuality
SIO_000300: -9.735e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 667
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570746418698165e-5
allele num: 63664
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.953125e-4
allele num: 10240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.734607e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

FS
type: SiteQuality
SIO_000300: 7.861e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

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: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.218480378513777e-5
allele num: 57488
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

FS
type: SiteQuality
SIO_000300: 1.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.500128e6

GenotypeQuality
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bin: 5.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.536802196365538e-5
allele num: 15298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7176
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53774
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.317987e6

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 3.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.419244961680386e-4
allele num: 7046
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.117068811438785e-4
allele num: 8952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52490
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.593696426216537e-5
allele num: 15166
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.677e1

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 201
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1907
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GenotypeQuality
all individuals: 98
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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: 10

GenotypeQuality
all individuals: 333
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GenotypeQuality
all individuals: 3457
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GenotypeQuality
all individuals: 224
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5992
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.320306311064167e-4
allele num: 15148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.71939477303989e-4
allele num: 52344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8926
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.004e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.251941e6

VQSLOD
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 9.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

GenotypeQuality
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bin: 2.75e1
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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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 0

African
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allele count: 2
allele frequency: 2.169197396963124e-4
allele num: 9220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.158712e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

BaseQRankSum
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SIO_000300: -1.537e0

VQSLOD
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SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.25e1
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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bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.967359050445104e-4
allele num: 6740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49528
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.158712e6

QD
type: SiteQuality
SIO_000300: 9.9e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 741
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variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.012315370064797e-5
allele num: 49694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6766
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.932e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

DP
type: SiteQuality
SIO_000300: 1.156913e6

QD
type: SiteQuality
SIO_000300: 1.664e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 748
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47672
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

DP
type: SiteQuality
SIO_000300: 1.119387e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.516e1

QD
type: SiteQuality
SIO_000300: 1.259e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45780
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.739336492890995e-4
allele num: 6330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8818
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

DP
type: SiteQuality
SIO_000300: 1.084606e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13852
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.497454327643007e-4
allele num: 6678
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -3.298e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.718e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-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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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6678
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 41624
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 688
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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allele frequency: 1.193887297039159e-4
allele num: 8376
num of homozygotes: 0

South Asian
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allele count: 0
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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FS
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558895055184885e-5
allele num: 64148
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.33e-1

ReadPosRankSum
type: SiteQuality
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DP
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.125e0

FS
type: SiteQuality
SIO_000300: 3.521e0

GenotypeDepth
all individuals: 127
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558846453624318e-5
allele num: 64150
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.772e0

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 2.198e0

DP
type: SiteQuality
SIO_000300: 1.58186e6

GenotypeDepth
all individuals: 66
bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 147
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558457750210392e-5
allele num: 64166
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

FS
type: SiteQuality
SIO_000300: 4.485e0

QD
type: SiteQuality
SIO_000300: 1.593e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

DP
type: SiteQuality
SIO_000300: 1.583065e6

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeDepth
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1447
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1372
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 377
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variant carriers: 0

GenotypeQuality
all individuals: 7310
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.25e-3
allele num: 800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.25e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.554e0

DP
type: SiteQuality
SIO_000300: 1.587889e6

GenotypeDepth
all individuals: 53
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 156
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variant carriers: 0

GenotypeDepth
all individuals: 84
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variant carriers: 0

GenotypeDepth
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
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variant carriers: 0

GenotypeQuality
all individuals: 330
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7308
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1336
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1372
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.669406051550243e-5
allele num: 64248
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.305e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.588922e6

QD
type: SiteQuality
SIO_000300: 1.188e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

GenotypeDepth
all individuals: 54
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
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variant carriers: 0

GenotypeDepth
all individuals: 52
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 1336
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64298
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.95e-1

FS
type: SiteQuality
SIO_000300: 6.722e0

DP
type: SiteQuality
SIO_000300: 1.591335e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.808e1

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12042
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 2.899e0

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 1.617784e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeDepth
all individuals: 87
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variant carriers: 0

GenotypeDepth
all individuals: 125
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variant carriers: 0

GenotypeDepth
all individuals: 265
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GenotypeDepth
all individuals: 65
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GenotypeDepth
all individuals: 55
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variant carriers: 1

GenotypeDepth
all individuals: 85
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GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 291
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 112
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 329
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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: 7
allele frequency: 1.074047933224906e-4
allele num: 65174
num of homozygotes: 0

South Asian
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African
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Other
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East Asian
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
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allele frequency: 8.19672131147541e-5
allele num: 12200
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Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 8.462786923255274e-3
allele num: 8626
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European (Non-Finnish)
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allele frequency: 1.533695285420693e-5
allele num: 65202
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African
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 22
allele frequency: 3.34448160535117e-4
allele num: 65780
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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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allele frequency: 0.0e0
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African
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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MQ
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DP
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QD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

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

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

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

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

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

East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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Latino
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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MQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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African
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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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MQ
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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MQ
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Other
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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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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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ReadPosRankSum
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FS
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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African
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allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQ
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ClippingRankSum
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FS
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 1.519756838905775e-3
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 44576
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East Asian
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Latino
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allele num: 7612
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African
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South Asian
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European (Finnish)
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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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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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.44140625e-5
allele num: 40960
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

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

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

Latino
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European (Non-Finnish)
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African
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East Asian
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Other
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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QD
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DP
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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South Asian
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DP
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VQSLOD
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (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 num: 22252
num of homozygotes: 0

South Asian
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East Asian
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Other
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African
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Latino
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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SIO_000300: 1.51e-1

QD
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 4472
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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 (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

European (Non-Finnish)
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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

DP
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -3.72e-2

BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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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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Latino
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Other
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South Asian
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ClippingRankSum
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 3104
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

Other
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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: 17674
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African
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East Asian
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BaseQRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 7.471607890017931e-5
allele num: 13384
num of homozygotes: 0

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

Latino
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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European (Finnish)
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FS
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MQRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4570
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1186
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 4.739336492890995e-4
allele num: 4220
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.738e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.61e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.85945e5

QD
type: SiteQuality
SIO_000300: 1.076e1

GenotypeDepth
all individuals: 43
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25282
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2349
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 58
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 440
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 131
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.990430622009569e-3
allele num: 5016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 2.44946e5

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.65e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

QD
type: SiteQuality
SIO_000300: 1.133e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 696
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5697
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0